Canonical Allele Identifier: CA791500376

Gene: AGA

Linked Data

• dbSNP Id: rs1342129281
• gnomAD v3: 4-177437665-TA-T
• gnomAD v4: 4-177437665-TA-T
• MyVariant Identifiers: chr4:g.178358820del (hg19) ; chr4:g.177437666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437667del , CM000666.2:g.177437667del	GRCh38
NC_000004.11:g.178358821del , CM000666.1:g.178358821del	GRCh37
NC_000004.10:g.178595815del	NCBI36
NG_011845.2:g.9838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-147del MANE Select	ENSP00000264595.2:n.508-147del
ENST00000264595.6:c.508-147del	ENSP00000264595.2:n.508-147del
ENST00000502310.5:c.163-147del	ENSP00000423798.1:n.163-147del
ENST00000506853.5:n.542-147del
ENST00000510635.1:c.204-147del
ENST00000510955.5:n.429-147del
NM_000027.3:c.508-147del	NP_000018.2:n.508-147del
NM_001171988.1:c.508-147del	NP_001165459.1:n.508-147del
NR_033655.1:n.636-147del
XM_006714123.2:c.508-147del	XP_006714186.1:n.508-147del
XR_001741155.2:n.602-147del
NM_000027.4:c.508-147del MANE Select	NP_000018.2:n.508-147del
NM_001171988.2:c.508-147del	NP_001165459.1:n.508-147del
NR_033655.2:n.570-147del