Canonical Allele Identifier: CA1071329812

Gene: AGA

Linked Data

• dbSNP Id: rs1736857091
• gnomAD v3: 4-177437362-TAACTA-T
• gnomAD v4: 4-177437362-TAACTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437367_177437371del , CM000666.2:g.177437367_177437371del	GRCh38
NC_000004.11:g.178358521_178358525del , CM000666.1:g.178358521_178358525del	GRCh37
NC_000004.10:g.178595515_178595519del	NCBI36
NG_011845.2:g.10137_10141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.622+38_622+42del MANE Select	ENSP00000264595.2:n.622+38_622+42del
ENST00000264595.6:c.622+38_622+42del	ENSP00000264595.2:n.622+38_622+42del
ENST00000502310.5:c.277+38_277+42del	ENSP00000423798.1:n.277+38_277+42del
ENST00000506853.5:n.656+38_656+42del
ENST00000510635.1:c.318+38_318+42del
ENST00000510955.5:n.581_585del
NM_000027.3:c.622+38_622+42del	NP_000018.2:n.622+38_622+42del
NM_001171988.1:c.622+38_622+42del	NP_001165459.1:n.622+38_622+42del
NR_033655.1:n.750+38_750+42del
XM_006714123.2:c.622+38_622+42del	XP_006714186.1:n.622+38_622+42del
XR_001741155.2:n.716+38_716+42del
NM_000027.4:c.622+38_622+42del MANE Select	NP_000018.2:n.622+38_622+42del
NM_001171988.2:c.622+38_622+42del	NP_001165459.1:n.622+38_622+42del
NR_033655.2:n.684+38_684+42del