Canonical Allele Identifier: CA1071328614

Gene: AGA

Linked Data

• dbSNP Id: rs1736749520
• gnomAD v3: 4-177434638-ATT-A
• gnomAD v4: 4-177434638-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434639_177434640del , CM000666.2:g.177434639_177434640del	GRCh38
NC_000004.11:g.178355793_178355794del , CM000666.1:g.178355793_178355794del	GRCh37
NC_000004.10:g.178592787_178592788del	NCBI36
NG_011845.2:g.12864_12865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-151_699-150del MANE Select	ENSP00000264595.2:n.699-151_699-150del
ENST00000264595.6:c.699-151_699-150del	ENSP00000264595.2:n.699-151_699-150del
ENST00000502310.5:c.278-159_278-158del	ENSP00000423798.1:n.278-159_278-158del
ENST00000506853.5:n.657-151_657-150del
ENST00000510635.1:c.373-159_373-158del
NM_000027.3:c.699-151_699-150del	NP_000018.2:n.699-151_699-150del
NM_001171988.1:c.677-159_677-158del	NP_001165459.1:n.677-159_677-158del
NR_033655.1:n.751-151_751-150del
XM_006714123.2:c.677-151_677-150del	XP_006714186.1:n.677-151_677-150del
XR_001741155.2:n.771-151_771-150del
NM_000027.4:c.699-151_699-150del MANE Select	NP_000018.2:n.699-151_699-150del
NM_001171988.2:c.677-159_677-158del	NP_001165459.1:n.677-159_677-158del
NR_033655.2:n.685-151_685-150del