Canonical Allele Identifier: CA2672746380

Gene: AGA

Linked Data

• gnomAD v4: 4-177434452-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434454del , CM000666.2:g.177434454del	GRCh38
NC_000004.11:g.178355608del , CM000666.1:g.178355608del	GRCh37
NC_000004.10:g.178592602del	NCBI36
NG_011845.2:g.13051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.735del MANE Select	ENSP00000264595.2:p.Tyr246MetfsTer18
ENST00000264595.6:c.735del	ENSP00000264595.2:p.Tyr246MetfsTer18
ENST00000502310.5:c.306del	ENSP00000423798.1:p.Tyr103MetfsTer18
ENST00000506853.5:n.693del
ENST00000510635.1:c.401del
NM_000027.3:c.735del	NP_000018.2:p.Tyr246MetfsTer18
NM_001171988.1:c.705del	NP_001165459.1:p.Tyr236MetfsTer18
NR_033655.1:n.787del
XM_006714123.2:c.*29del	XP_006714186.1:n.*29del
XR_001741155.2:n.807del
NM_000027.4:c.735del MANE Select	NP_000018.2:p.Tyr246MetfsTer18
NM_001171988.2:c.705del	NP_001165459.1:p.Tyr236MetfsTer18
NR_033655.2:n.721del