Canonical Allele Identifier: CA1071331495

Gene: AGA

Linked Data

• dbSNP Id: rs1737022402
• gnomAD v3: 4-177441812-GAA-G
• gnomAD v4: 4-177441812-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441815_177441816del , CM000666.2:g.177441815_177441816del	GRCh38
NC_000004.11:g.178362969_178362970del , CM000666.1:g.178362969_178362970del	GRCh37
NC_000004.10:g.178599963_178599964del	NCBI36
NG_011845.2:g.5690_5691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+435_127+436del MANE Select	ENSP00000264595.2:n.127+435_127+436del
ENST00000264595.6:c.127+435_127+436del	ENSP00000264595.2:n.127+435_127+436del
ENST00000506853.5:n.161+435_161+436del
ENST00000510955.5:n.161+435_161+436del
ENST00000511231.1:n.161+435_161+436del
NM_000027.3:c.127+435_127+436del	NP_000018.2:n.127+435_127+436del
NM_001171988.1:c.127+435_127+436del	NP_001165459.1:n.127+435_127+436del
NR_033655.1:n.255+435_255+436del
XM_006714123.2:c.127+435_127+436del	XP_006714186.1:n.127+435_127+436del
XR_001741155.2:n.221+435_221+436del
NM_000027.4:c.127+435_127+436del MANE Select	NP_000018.2:n.127+435_127+436del
NM_001171988.2:c.127+435_127+436del	NP_001165459.1:n.127+435_127+436del
NR_033655.2:n.189+435_189+436del