Canonical Allele Identifier: CA1071331713

Gene: AGA

Linked Data

• dbSNP Id: rs1737057243
• gnomAD v3: 4-177442262-AT-A
• gnomAD v4: 4-177442262-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442264del , CM000666.2:g.177442264del	GRCh38
NC_000004.11:g.178363418del , CM000666.1:g.178363418del	GRCh37
NC_000004.10:g.178600412del	NCBI36
NG_011845.2:g.5241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.113del MANE Select	ENSP00000264595.2:p.Asn38MetfsTer10
ENST00000264595.6:c.113del	ENSP00000264595.2:p.Asn38MetfsTer10
ENST00000506853.5:n.147del
ENST00000510955.5:n.147del
ENST00000511231.1:n.147del
NM_000027.3:c.113del	NP_000018.2:p.Asn38MetfsTer10
NM_001171988.1:c.113del	NP_001165459.1:p.Asn38MetfsTer10
NR_033655.1:n.241del
XM_006714123.2:c.113del	XP_006714186.1:p.Asn38MetfsTer10
XR_001741155.2:n.207del
NM_000027.4:c.113del MANE Select	NP_000018.2:p.Asn38MetfsTer10
NM_001171988.2:c.113del	NP_001165459.1:p.Asn38MetfsTer10
NR_033655.2:n.175del