Canonical Allele Identifier: CA6746355

Gene: GNPTAB

Linked Data

• dbSNP Id: rs746722377
• ExAC: 12:102155541 C / CGTCGAGAAGAT
• gnomAD v4: 12-101761763-C-CGTCGAGAAGAT
• MyVariant Identifiers: chr12:g.102155541_102155542insGTCGAGAAGAT (hg19) ; chr12:g.101761763_101761764insGTCGAGAAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761763_101761764insGTCGAGAAGAT , CM000674.2:g.101761763_101761764insGTCGAGAAGAT	GRCh38
NC_000012.11:g.102155541_102155542insGTCGAGAAGAT , CM000674.1:g.102155541_102155542insGTCGAGAAGAT	GRCh37
NC_000012.10:g.100679672_100679673insGTCGAGAAGAT	NCBI36
NG_021243.1:g.74104_74105insATCTTCTCGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-1_2716insATCTTCTCGAC MANE Select	ENSP00000299314.7:n.2716-1_2716insATCTTCTCGAC
ENST00000299314.11:c.2716-1_2716insATCTTCTCGAC	ENSP00000299314.7:n.2716-1_2716insATCTTCTCGAC
NM_024312.4:c.2716-1_2716insATCTTCTCGAC	NP_077288.2:n.2716-1_2716insATCTTCTCGAC
XM_006719593.2:c.2716-1_2716insATCTTCTCGAC	XP_006719656.1:n.2716-1_2716insATCTTCTCGAC
XM_011538731.1:c.2635-1_2635insATCTTCTCGAC	XP_011537033.1:n.2635-1_2635insATCTTCTCGAC
XM_006719593.3:c.2716-1_2716insATCTTCTCGAC	XP_006719656.1:n.2716-1_2716insATCTTCTCGAC
XM_011538731.2:c.2635-1_2635insATCTTCTCGAC	XP_011537033.1:n.2635-1_2635insATCTTCTCGAC
XM_017019961.1:c.2500-1_2500insATCTTCTCGAC	XP_016875450.1:n.2500-1_2500insATCTTCTCGAC
XM_017019962.2:c.1489-1_1489insATCTTCTCGAC	XP_016875451.1:n.1489-1_1489insATCTTCTCGAC
NM_024312.5:c.2716-1_2716insATCTTCTCGAC MANE Select	NP_077288.2:n.2716-1_2716insATCTTCTCGAC