Canonical Allele Identifier: CA682765709

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1373077050
• MyVariant Identifiers: chr12:g.102224474_102224475insCGCCC (hg19) ; chr12:g.101830696_101830697insCGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830699_101830703dup , CM000674.2:g.101830699_101830703dup	GRCh38
NC_000012.11:g.102224477_102224481dup , CM000674.1:g.102224477_102224481dup	GRCh37
NC_000012.10:g.100748608_100748612dup	NCBI36
NG_021243.1:g.5167_5171dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-26_-22dup MANE Select	ENSP00000299314.7:n.-26_-22dup
ENST00000299314.11:c.-26_-22dup	ENSP00000299314.7:n.-26_-22dup
ENST00000392919.4:c.-26_-22dup	ENSP00000376651.4:n.-26_-22dup
ENST00000549940.5:c.-26_-22dup	ENSP00000449150.1:n.-26_-22dup
NM_024312.4:c.-26_-22dup	NP_077288.2:n.-26_-22dup
XM_006719593.2:c.-26_-22dup	XP_006719656.1:n.-26_-22dup
XM_006719593.3:c.-26_-22dup	XP_006719656.1:n.-26_-22dup
XM_017019961.1:c.-175_-171dup	XP_016875450.1:n.-175_-171dup
XM_017019962.2:c.-1376_-1372dup	XP_016875451.1:n.-1376_-1372dup
NM_024312.5:c.-26_-22dup MANE Select	NP_077288.2:n.-26_-22dup