Canonical Allele Identifier: CA2575265310

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2942203
• ClinVar RCV Id: RCV003805417

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830645dup , CM000674.2:g.101830645dup	GRCh38
NC_000012.11:g.102224423dup , CM000674.1:g.102224423dup	GRCh37
NC_000012.10:g.100748554dup	NCBI36
NG_021243.1:g.5223dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.31dup MANE Select	ENSP00000299314.7:p.Tyr11LeufsTer?
ENST00000647144.1:n.19dup
ENST00000299314.11:c.31dup	ENSP00000299314.7:p.Tyr11LeufsTer?
ENST00000392919.4:c.31dup	ENSP00000376651.4:p.Tyr11LeufsTer?
ENST00000549165.1:c.31dup	ENSP00000450413.1:p.Tyr11LeufsTer?
ENST00000549940.5:c.31dup	ENSP00000449150.1:p.Tyr11LeufsTer?
NM_024312.4:c.31dup	NP_077288.2:p.Tyr11LeufsTer?
XM_006719593.2:c.31dup	XP_006719656.1:p.Tyr11LeufsTer?
XM_006719593.3:c.31dup	XP_006719656.1:p.Tyr11LeufsTer?
XM_017019961.1:c.-119dup	XP_016875450.1:n.-119dup
XM_017019962.2:c.-1320dup	XP_016875451.1:n.-1320dup
NM_024312.5:c.31dup MANE Select	NP_077288.2:p.Tyr11LeufsTer?