Canonical Allele Identifier: CA16040936

Gene: AGA

Linked Data

• ClinVar Variation Id: 371395
• ClinVar RCV Id: RCV000409106
• dbSNP Id: rs1057517239
• MyVariant Identifiers: chr4:g.178363460del (hg19) ; chr4:g.177442306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442306del , CM000666.2:g.177442306del	GRCh38
NC_000004.11:g.178363460del , CM000666.1:g.178363460del	GRCh37
NC_000004.10:g.178600454del	NCBI36
NG_011845.2:g.5198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.70del MANE Select	ENSP00000264595.2:p.Ser24ProfsTer24
ENST00000264595.6:c.70del	ENSP00000264595.2:p.Ser24ProfsTer24
ENST00000506853.5:n.104del
ENST00000510955.5:n.104del
ENST00000511231.1:n.104del
NM_000027.3:c.70del	NP_000018.2:p.Ser24ProfsTer24
NM_001171988.1:c.70del	NP_001165459.1:p.Ser24ProfsTer24
NR_033655.1:n.198del
XM_006714123.2:c.70del	XP_006714186.1:p.Ser24ProfsTer24
XR_001741155.2:n.164del
NM_000027.4:c.70del MANE Select	NP_000018.2:p.Ser24ProfsTer24
NM_001171988.2:c.70del	NP_001165459.1:p.Ser24ProfsTer24
NR_033655.2:n.132del