Canonical Allele Identifier: CA682730111

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1311188742
• MyVariant Identifiers: chr12:g.102162155_102162156insT (hg19) ; chr12:g.101768377_101768378insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768384dup , CM000674.2:g.101768384dup	GRCh38
NC_000012.11:g.102162162dup , CM000674.1:g.102162162dup	GRCh37
NC_000012.10:g.100686293dup	NCBI36
NG_021243.1:g.67490dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-218dup MANE Select	ENSP00000299314.7:n.1285-218dup
ENST00000299314.11:c.1285-218dup	ENSP00000299314.7:n.1285-218dup
ENST00000549940.5:c.1285-218dup	ENSP00000449150.1:n.1285-218dup
NM_024312.4:c.1285-218dup	NP_077288.2:n.1285-218dup
XM_006719593.2:c.1285-218dup	XP_006719656.1:n.1285-218dup
XM_011538731.1:c.1204-218dup	XP_011537033.1:n.1204-218dup
XM_006719593.3:c.1285-218dup	XP_006719656.1:n.1285-218dup
XM_011538731.2:c.1204-218dup	XP_011537033.1:n.1204-218dup
XM_017019961.1:c.1069-218dup	XP_016875450.1:n.1069-218dup
XM_017019962.2:c.58-218dup	XP_016875451.1:n.58-218dup
NM_024312.5:c.1285-218dup MANE Select	NP_077288.2:n.1285-218dup