Canonical Allele Identifier: CA912973313

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155524_102155530del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761746_101761752del , CM000674.2:g.101761746_101761752del	GRCh38
NC_000012.11:g.102155524_102155530del , CM000674.1:g.102155524_102155530del	GRCh37
NC_000012.10:g.100679655_100679661del	NCBI36
NG_021243.1:g.74117_74123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2728_2734del MANE Select	ENSP00000299314.7:p.Leu910HisfsTer16
ENST00000299314.11:c.2728_2734del	ENSP00000299314.7:p.Leu910HisfsTer16
NM_024312.4:c.2728_2734del	NP_077288.2:p.Leu910HisfsTer16
XM_006719593.2:c.2728_2734del	XP_006719656.1:p.Leu910HisfsTer16
XM_011538731.1:c.2647_2653del	XP_011537033.1:p.Leu883HisfsTer16
XM_006719593.3:c.2728_2734del	XP_006719656.1:p.Leu910HisfsTer16
XM_011538731.2:c.2647_2653del	XP_011537033.1:p.Leu883HisfsTer16
XM_017019961.1:c.2512_2518del	XP_016875450.1:p.Leu838HisfsTer16
XM_017019962.2:c.1501_1507del	XP_016875451.1:p.Leu501HisfsTer16
NM_024312.5:c.2728_2734del MANE Select	NP_077288.2:p.Leu910HisfsTer16