Canonical Allele Identifier: CA916082669

Gene: AGA

Linked Data

• ClinVar Variation Id: 855317
• ClinVar RCV Id: RCV001060563
• dbSNP Id: rs1736928101
• gnomAD v4: 4-177439598-GTGTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439602_177439606del , CM000666.2:g.177439602_177439606del	GRCh38
NC_000004.11:g.178360756_178360760del , CM000666.1:g.178360756_178360760del	GRCh37
NC_000004.10:g.178597750_178597754del	NCBI36
NG_011845.2:g.7901_7905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.367_371del MANE Select	ENSP00000264595.2:p.Thr123HisfsTer20
ENST00000264595.6:c.367_371del	ENSP00000264595.2:p.Thr123HisfsTer20
ENST00000502310.5:c.22_26del	ENSP00000423798.1:p.Thr8HisfsTer20
ENST00000506853.5:n.401_405del
ENST00000510635.1:c.63_67del
ENST00000510955.5:n.315+670_315+674del
NM_000027.3:c.367_371del	NP_000018.2:p.Thr123HisfsTer20
NM_001171988.1:c.367_371del	NP_001165459.1:p.Thr123HisfsTer20
NR_033655.1:n.495_499del
XM_006714123.2:c.367_371del	XP_006714186.1:p.Thr123HisfsTer20
XR_001741155.2:n.461_465del
NM_000027.4:c.367_371del MANE Select	NP_000018.2:p.Thr123HisfsTer20
NM_001171988.2:c.367_371del	NP_001165459.1:p.Thr123HisfsTer20
NR_033655.2:n.429_433del