Canonical Allele Identifier: CA791500394

Gene: AGA

Linked Data

• dbSNP Id: rs1283522368
• gnomAD v3: 4-177437682-CAAAT-C
• gnomAD v4: 4-177437682-CAAAT-C
• MyVariant Identifiers: chr4:g.178358837_178358840del (hg19) ; chr4:g.177437683_177437686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437685_177437688del , CM000666.2:g.177437685_177437688del	GRCh38
NC_000004.11:g.178358839_178358842del , CM000666.1:g.178358839_178358842del	GRCh37
NC_000004.10:g.178595833_178595836del	NCBI36
NG_011845.2:g.9818_9821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.508-167_508-164del MANE Select	ENSP00000264595.2:n.508-167_508-164del
ENST00000264595.6:c.508-167_508-164del	ENSP00000264595.2:n.508-167_508-164del
ENST00000502310.5:c.163-167_163-164del	ENSP00000423798.1:n.163-167_163-164del
ENST00000506853.5:n.542-167_542-164del
ENST00000510635.1:c.204-167_204-164del
ENST00000510955.5:n.429-167_429-164del
NM_000027.3:c.508-167_508-164del	NP_000018.2:n.508-167_508-164del
NM_001171988.1:c.508-167_508-164del	NP_001165459.1:n.508-167_508-164del
NR_033655.1:n.636-167_636-164del
XM_006714123.2:c.508-167_508-164del	XP_006714186.1:n.508-167_508-164del
XR_001741155.2:n.602-167_602-164del
NM_000027.4:c.508-167_508-164del MANE Select	NP_000018.2:n.508-167_508-164del
NM_001171988.2:c.508-167_508-164del	NP_001165459.1:n.508-167_508-164del
NR_033655.2:n.570-167_570-164del