Canonical Allele Identifier: CA6746357

Gene: GNPTAB

Linked Data

• dbSNP Id: rs566641703
• ExAC: 12:102155543 T / TTG
• gnomAD v4: 12-101761765-T-TTG
• MyVariant Identifiers: chr12:g.102155543_102155544insTG (hg19) ; chr12:g.101761765_101761766insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761765_101761766insTG , CM000674.2:g.101761765_101761766insTG	GRCh38
NC_000012.11:g.102155543_102155544insTG , CM000674.1:g.102155543_102155544insTG	GRCh37
NC_000012.10:g.100679674_100679675insTG	NCBI36
NG_021243.1:g.74102_74103insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-3_2716-2insCA MANE Select	ENSP00000299314.7:n.2716-3_2716-2insCA
ENST00000299314.11:c.2716-3_2716-2insCA	ENSP00000299314.7:n.2716-3_2716-2insCA
NM_024312.4:c.2716-3_2716-2insCA	NP_077288.2:n.2716-3_2716-2insCA
XM_006719593.2:c.2716-3_2716-2insCA	XP_006719656.1:n.2716-3_2716-2insCA
XM_011538731.1:c.2635-3_2635-2insCA	XP_011537033.1:n.2635-3_2635-2insCA
XM_006719593.3:c.2716-3_2716-2insCA	XP_006719656.1:n.2716-3_2716-2insCA
XM_011538731.2:c.2635-3_2635-2insCA	XP_011537033.1:n.2635-3_2635-2insCA
XM_017019961.1:c.2500-3_2500-2insCA	XP_016875450.1:n.2500-3_2500-2insCA
XM_017019962.2:c.1489-3_1489-2insCA	XP_016875451.1:n.1489-3_1489-2insCA
NM_024312.5:c.2716-3_2716-2insCA MANE Select	NP_077288.2:n.2716-3_2716-2insCA