Canonical Allele Identifier: CA481318168

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151413_102151414insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757635_101757636insT , CM000674.2:g.101757635_101757636insT	GRCh38
NC_000012.11:g.102151413_102151414insT , CM000674.1:g.102151413_102151414insT	GRCh37
NC_000012.10:g.100675544_100675545insT	NCBI36
NG_021243.1:g.78232_78233insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3271_3272insA MANE Select	ENSP00000299314.7:p.Val1091AspfsTer5
ENST00000299314.11:c.3271_3272insA	ENSP00000299314.7:p.Val1091AspfsTer5
ENST00000549194.1:n.137_138insA
ENST00000549738.5:c.22_23insA	ENSP00000450161.1:p.Val8AspfsTer5
ENST00000550718.1:c.83_84insA
NM_024312.4:c.3271_3272insA	NP_077288.2:p.Val1091AspfsTer5
XM_006719593.2:c.3271_3272insA	XP_006719656.1:p.Val1091AspfsTer5
XM_011538731.1:c.3190_3191insA	XP_011537033.1:p.Val1064AspfsTer5
XM_006719593.3:c.3271_3272insA	XP_006719656.1:p.Val1091AspfsTer5
XM_011538731.2:c.3190_3191insA	XP_011537033.1:p.Val1064AspfsTer5
XM_017019961.1:c.3055_3056insA	XP_016875450.1:p.Val1019AspfsTer5
XM_017019962.2:c.2044_2045insA	XP_016875451.1:p.Val682AspfsTer5
NM_024312.5:c.3271_3272insA MANE Select	NP_077288.2:p.Val1091AspfsTer5