Canonical Allele Identifier: CA242447420

Gene: GNPTAB

Linked Data

• dbSNP Id: rs959237256
• gnomAD v3: 12-101753283-TA-T
• gnomAD v4: 12-101753283-TA-T
• COSMIC: COSN508468 ; COSN1140855
• MyVariant Identifiers: chr12:g.102147062del (hg19) ; chr12:g.101753284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753291del , CM000674.2:g.101753291del	GRCh38
NC_000012.11:g.102147069del , CM000674.1:g.102147069del	GRCh37
NC_000012.10:g.100671200del	NCBI36
NG_021243.1:g.82584del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+88del MANE Select	ENSP00000299314.7:n.3602+88del
ENST00000299314.11:c.3602+88del	ENSP00000299314.7:n.3602+88del
ENST00000549738.5:c.500+88del	ENSP00000450161.1:n.500+88del
NM_024312.4:c.3602+88del	NP_077288.2:n.3602+88del
XM_011538731.1:c.3521+88del	XP_011537033.1:n.3521+88del
XM_011538731.2:c.3521+88del	XP_011537033.1:n.3521+88del
XM_017019961.1:c.3386+88del	XP_016875450.1:n.3386+88del
XM_017019962.2:c.2375+88del	XP_016875451.1:n.2375+88del
NM_024312.5:c.3602+88del MANE Select	NP_077288.2:n.3602+88del