Canonical Allele Identifier: CA682765916

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1380690778
• MyVariant Identifiers: chr12:g.102224570_102224581del (hg19) ; chr12:g.101830792_101830803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830795_101830806del , CM000674.2:g.101830795_101830806del	GRCh38
NC_000012.11:g.102224573_102224584del , CM000674.1:g.102224573_102224584del	GRCh37
NC_000012.10:g.100748704_100748715del	NCBI36
NG_021243.1:g.5065_5076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-128_-117del MANE Select	ENSP00000299314.7:n.-128_-117del
ENST00000299314.11:c.-128_-117del	ENSP00000299314.7:n.-128_-117del
ENST00000392919.4:c.-128_-117del	ENSP00000376651.4:n.-128_-117del
ENST00000549940.5:c.-128_-117del	ENSP00000449150.1:n.-128_-117del
NM_024312.4:c.-128_-117del	NP_077288.2:n.-128_-117del
XM_006719593.2:c.-128_-117del	XP_006719656.1:n.-128_-117del
XM_006719593.3:c.-128_-117del	XP_006719656.1:n.-128_-117del
XM_017019961.1:c.-277_-266del	XP_016875450.1:n.-277_-266del
XM_017019962.2:c.-1478_-1467del	XP_016875451.1:n.-1478_-1467del
NM_024312.5:c.-128_-117del MANE Select	NP_077288.2:n.-128_-117del