Canonical Allele Identifier: CA16609428

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 397563
• ClinVar RCV Id: RCV000449601
• dbSNP Id: rs1555269488
• MyVariant Identifiers: chr12:g.102158020dupA (hg19) ; chr12:g.102158019_102158020insA (hg19) ; chr12:g.101764242dupA (hg38) ; chr12:g.101764241_101764242insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764246dup , CM000674.2:g.101764246dup	GRCh38
NC_000012.11:g.102158024dup , CM000674.1:g.102158024dup	GRCh37
NC_000012.10:g.100682155dup	NCBI36
NG_021243.1:g.71626dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2675dup MANE Select	ENSP00000299314.7:p.Leu892PhefsTer28
ENST00000299314.11:c.2675dup	ENSP00000299314.7:p.Leu892PhefsTer28
NM_024312.4:c.2675dup	NP_077288.2:p.Leu892PhefsTer28
XM_006719593.2:c.2675dup	XP_006719656.1:p.Leu892PhefsTer28
XM_011538731.1:c.2594dup	XP_011537033.1:p.Leu865PhefsTer28
XM_006719593.3:c.2675dup	XP_006719656.1:p.Leu892PhefsTer28
XM_011538731.2:c.2594dup	XP_011537033.1:p.Leu865PhefsTer28
XM_017019961.1:c.2459dup	XP_016875450.1:p.Leu820PhefsTer28
XM_017019962.2:c.1448dup	XP_016875451.1:p.Leu483PhefsTer28
NM_024312.5:c.2675dup MANE Select	NP_077288.2:p.Leu892PhefsTer28