Canonical Allele Identifier: CA912973312

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155506_102155512del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761729_101761735del , CM000674.2:g.101761729_101761735del	GRCh38
NC_000012.11:g.102155507_102155513del , CM000674.1:g.102155507_102155513del	GRCh37
NC_000012.10:g.100679638_100679644del	NCBI36
NG_021243.1:g.74135_74141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2746_2752del MANE Select	ENSP00000299314.7:p.Tyr916LeufsTer10
ENST00000299314.11:c.2746_2752del	ENSP00000299314.7:p.Tyr916LeufsTer10
NM_024312.4:c.2746_2752del	NP_077288.2:p.Tyr916LeufsTer10
XM_006719593.2:c.2746_2752del	XP_006719656.1:p.Tyr916LeufsTer10
XM_011538731.1:c.2665_2671del	XP_011537033.1:p.Tyr889LeufsTer10
XM_006719593.3:c.2746_2752del	XP_006719656.1:p.Tyr916LeufsTer10
XM_011538731.2:c.2665_2671del	XP_011537033.1:p.Tyr889LeufsTer10
XM_017019961.1:c.2530_2536del	XP_016875450.1:p.Tyr844LeufsTer10
XM_017019962.2:c.1519_1525del	XP_016875451.1:p.Tyr507LeufsTer10
NM_024312.5:c.2746_2752del MANE Select	NP_077288.2:p.Tyr916LeufsTer10