Canonical Allele Identifier: CA6746860

Gene: GNPTAB

Linked Data

• dbSNP Id: rs771857895
• ExAC: 12:102179808 AAAC / A
• gnomAD v2: 12-102179808-AAAC-A
• gnomAD v4: 12-101786030-AAAC-A
• MyVariant Identifiers: chr12:g.102179809_102179811del (hg19) ; chr12:g.101786031_101786033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786037_101786039del , CM000674.2:g.101786037_101786039del	GRCh38
NC_000012.11:g.102179815_102179817del , CM000674.1:g.102179815_102179817del	GRCh37
NC_000012.10:g.100703946_100703948del	NCBI36
NG_021243.1:g.49835_49837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.550_552del MANE Select	ENSP00000299314.7:p.Val184del
ENST00000299314.11:c.550_552del	ENSP00000299314.7:p.Val184del
ENST00000549940.5:c.550_552del	ENSP00000449150.1:p.Val184del
ENST00000550352.1:n.344_346del
ENST00000552681.1:c.184_186del	ENSP00000449217.1:p.Val62del
NM_024312.4:c.550_552del	NP_077288.2:p.Val184del
XM_006719593.2:c.550_552del	XP_006719656.1:p.Val184del
XM_011538731.1:c.469_471del	XP_011537033.1:p.Val157del
XM_006719593.3:c.550_552del	XP_006719656.1:p.Val184del
XM_011538731.2:c.469_471del	XP_011537033.1:p.Val157del
XM_017019961.1:c.334_336del	XP_016875450.1:p.Val112del
XM_017019962.2:c.-801_-799del	XP_016875451.1:n.-801_-799del
NM_024312.5:c.550_552del MANE Select	NP_077288.2:p.Val184del