Canonical Allele Identifier: CA682730106

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1319189991
• MyVariant Identifiers: chr12:g.102162149_102162152del (hg19) ; chr12:g.101768371_101768374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768373_101768376del , CM000674.2:g.101768373_101768376del	GRCh38
NC_000012.11:g.102162151_102162154del , CM000674.1:g.102162151_102162154del	GRCh37
NC_000012.10:g.100686282_100686285del	NCBI36
NG_021243.1:g.67494_67497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-214_1285-211del MANE Select	ENSP00000299314.7:n.1285-214_1285-211del
ENST00000299314.11:c.1285-214_1285-211del	ENSP00000299314.7:n.1285-214_1285-211del
ENST00000549940.5:c.1285-214_1285-211del	ENSP00000449150.1:n.1285-214_1285-211del
NM_024312.4:c.1285-214_1285-211del	NP_077288.2:n.1285-214_1285-211del
XM_006719593.2:c.1285-214_1285-211del	XP_006719656.1:n.1285-214_1285-211del
XM_011538731.1:c.1204-214_1204-211del	XP_011537033.1:n.1204-214_1204-211del
XM_006719593.3:c.1285-214_1285-211del	XP_006719656.1:n.1285-214_1285-211del
XM_011538731.2:c.1204-214_1204-211del	XP_011537033.1:n.1204-214_1204-211del
XM_017019961.1:c.1069-214_1069-211del	XP_016875450.1:n.1069-214_1069-211del
XM_017019962.2:c.58-214_58-211del	XP_016875451.1:n.58-214_58-211del
NM_024312.5:c.1285-214_1285-211del MANE Select	NP_077288.2:n.1285-214_1285-211del