Canonical Allele Identifier: CA343414

Gene: GNPTAB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780177dup , CM000674.2:g.101780177dup	GRCh38
NC_000012.11:g.102173955dup , CM000674.1:g.102173955dup	GRCh37
NC_000012.10:g.100698086dup	NCBI36
NG_021243.1:g.55694dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.749dup MANE Select	ENSP00000299314.7:p.Asn250LysfsTer5
ENST00000299314.11:c.749dup	ENSP00000299314.7:p.Asn250LysfsTer5
ENST00000549940.5:c.749dup	ENSP00000449150.1:p.Asn250LysfsTer5
ENST00000552681.1:c.383dup	ENSP00000449217.1:p.Asn128LysfsTer5
NM_024312.4:c.749dup	NP_077288.2:p.Asn250LysfsTer5
XM_006719593.2:c.749dup	XP_006719656.1:p.Asn250LysfsTer5
XM_011538731.1:c.668dup	XP_011537033.1:p.Asn223LysfsTer5
XM_006719593.3:c.749dup	XP_006719656.1:p.Asn250LysfsTer5
XM_011538731.2:c.668dup	XP_011537033.1:p.Asn223LysfsTer5
XM_017019961.1:c.533dup	XP_016875450.1:p.Asn178LysfsTer5
XM_017019962.2:c.-602dup	XP_016875451.1:n.-602dup
NM_024312.5:c.749dup MANE Select	NP_077288.2:p.Asn250LysfsTer5