Canonical Allele Identifier: CA1061509913

Gene: APBB2

Linked Data

• gnomAD v3: 4-41133375-T-TTTTTTTTTTTTA
• gnomAD v4: 4-41133375-T-TTTTTTTTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41133375_41133376insTTTTTTTTTTTA , CM000666.2:g.41133375_41133376insTTTTTTTTTTTA	GRCh38
NC_000004.11:g.41135392_41135393insTTTTTTTTTTTA , CM000666.1:g.41135392_41135393insTTTTTTTTTTTA	GRCh37
NC_000004.10:g.40830149_40830150insTTTTTTTTTTTA	NCBI36
NG_013337.1:g.86243_86244insTAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508593.6:c.-261+9611_-261+9612insTAAAAAAAAAAA MANE Select	ENSP00000427211.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
ENST00000295974.12:c.-261+9611_-261+9612insTAAAAAAAAAAA	ENSP00000295974.8:n.-261+9611_-261+9612insTAAAAAAAAAAA
ENST00000502682.1:n.365+9611_365+9612insTAAAAAAAAAAA
ENST00000503264.5:c.-145+9611_-145+9612insTAAAAAAAAAAA	ENSP00000425202.1:n.-145+9611_-145+9612insTAAAAAAAAAAA
ENST00000503503.5:c.-163+4666_-163+4667insTAAAAAAAAAAA	ENSP00000421205.1:n.-163+4666_-163+4667insTAAAAAAAAAAA
ENST00000503555.5:n.360+9611_360+9612insTAAAAAAAAAAA
ENST00000506352.5:c.-261+9611_-261+9612insTAAAAAAAAAAA	ENSP00000421539.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
ENST00000506999.5:n.321+9611_321+9612insTAAAAAAAAAAA
ENST00000508593.5:c.-261+9611_-261+9612insTAAAAAAAAAAA	ENSP00000427211.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
ENST00000508676.5:c.-163+9611_-163+9612insTAAAAAAAAAAA	ENSP00000422723.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
ENST00000508707.5:c.-163+9611_-163+9612insTAAAAAAAAAAA	ENSP00000424579.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
ENST00000509446.5:c.-243+9611_-243+9612insTAAAAAAAAAAA	ENSP00000424414.1:n.-243+9611_-243+9612insTAAAAAAAAAAA
ENST00000511572.5:n.321+9611_321+9612insTAAAAAAAAAAA
ENST00000513140.5:c.-261+9611_-261+9612insTAAAAAAAAAAA	ENSP00000426018.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_001166050.1:c.-261+9611_-261+9612insTAAAAAAAAAAA	NP_001159522.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_004307.1:c.-261+9611_-261+9612insTAAAAAAAAAAA	NP_004298.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_173075.4:c.-261+9611_-261+9612insTAAAAAAAAAAA	NP_775098.2:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_005248101.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_005248158.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714005.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714068.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714006.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714069.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714007.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714070.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714008.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_006714071.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_006714009.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_006714072.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_006714010.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714073.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714011.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714074.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714012.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714075.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_011513686.1:c.-378+9611_-378+9612insTAAAAAAAAAAA	XP_011511988.1:n.-378+9611_-378+9612insTAAAAAAAAAAA
XM_011513687.1:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_011511989.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_011513688.1:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_011511990.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_001330656.1:c.-261+9611_-261+9612insTAAAAAAAAAAA	NP_001317585.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_001330658.1:c.-163+9611_-163+9612insTAAAAAAAAAAA	NP_001317587.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_006714005.4:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714068.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714007.4:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714070.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714008.4:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_006714071.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_006714009.4:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_006714072.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_006714010.4:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714073.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714011.4:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714074.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_006714012.4:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_006714075.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_011513686.3:c.-378+9611_-378+9612insTAAAAAAAAAAA	XP_011511988.1:n.-378+9611_-378+9612insTAAAAAAAAAAA
XM_011513687.3:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_011511989.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_011513688.3:c.-261+9611_-261+9612insTAAAAAAAAAAA	XP_011511990.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
XM_017008143.2:c.-378+9611_-378+9612insTAAAAAAAAAAA	XP_016863632.1:n.-378+9611_-378+9612insTAAAAAAAAAAA
XM_017008144.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_016863633.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_017008145.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_016863634.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_017008146.2:c.-243+9611_-243+9612insTAAAAAAAAAAA	XP_016863635.1:n.-243+9611_-243+9612insTAAAAAAAAAAA
XM_017008147.2:c.-243+9611_-243+9612insTAAAAAAAAAAA	XP_016863636.1:n.-243+9611_-243+9612insTAAAAAAAAAAA
XM_017008148.2:c.-145+9611_-145+9612insTAAAAAAAAAAA	XP_016863637.1:n.-145+9611_-145+9612insTAAAAAAAAAAA
XM_017008149.2:c.-243+9611_-243+9612insTAAAAAAAAAAA	XP_016863638.1:n.-243+9611_-243+9612insTAAAAAAAAAAA
XM_017008151.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_016863640.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_017008152.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_016863641.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_017008154.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	XP_016863643.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
XM_017008156.2:c.-243+9611_-243+9612insTAAAAAAAAAAA	XP_016863645.1:n.-243+9611_-243+9612insTAAAAAAAAAAA
XM_017008157.2:c.-145+9611_-145+9612insTAAAAAAAAAAA	XP_016863646.1:n.-145+9611_-145+9612insTAAAAAAAAAAA
XM_017008158.2:c.-243+9611_-243+9612insTAAAAAAAAAAA	XP_016863647.1:n.-243+9611_-243+9612insTAAAAAAAAAAA
NM_004307.2:c.-261+9611_-261+9612insTAAAAAAAAAAA MANE Select	NP_004298.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_001166050.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	NP_001159522.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_001330656.2:c.-261+9611_-261+9612insTAAAAAAAAAAA	NP_001317585.1:n.-261+9611_-261+9612insTAAAAAAAAAAA
NM_001330658.2:c.-163+9611_-163+9612insTAAAAAAAAAAA	NP_001317587.1:n.-163+9611_-163+9612insTAAAAAAAAAAA
NM_173075.5:c.-261+9611_-261+9612insTAAAAAAAAAAA	NP_775098.2:n.-261+9611_-261+9612insTAAAAAAAAAAA