Canonical Allele Identifier: CA2672747517

Gene: AGA

Linked Data

• gnomAD v4: 4-177438797-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438800_177438801del , CM000666.2:g.177438800_177438801del	GRCh38
NC_000004.11:g.178359954_178359955del , CM000666.1:g.178359954_178359955del	GRCh37
NC_000004.10:g.178596948_178596949del	NCBI36
NG_011845.2:g.8705_8706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.453_454del MANE Select	ENSP00000264595.2:p.Gln152SerfsTer?
ENST00000264595.6:c.453_454del	ENSP00000264595.2:p.Gln152SerfsTer?
ENST00000502310.5:c.108_109del	ENSP00000423798.1:p.Gln37SerfsTer?
ENST00000506853.5:n.487_488del
ENST00000510635.1:c.149_150del
ENST00000510955.5:n.374_375del
NM_000027.3:c.453_454del	NP_000018.2:p.Gln152SerfsTer?
NM_001171988.1:c.453_454del	NP_001165459.1:p.Gln152SerfsTer?
NR_033655.1:n.581_582del
XM_006714123.2:c.453_454del	XP_006714186.1:p.Gln152SerfsTer?
XR_001741155.2:n.547_548del
NM_000027.4:c.453_454del MANE Select	NP_000018.2:p.Gln152SerfsTer?
NM_001171988.2:c.453_454del	NP_001165459.1:p.Gln152SerfsTer?
NR_033655.2:n.515_516del