Canonical Allele Identifier: CA6746358

Gene: GNPTAB

Linked Data

• dbSNP Id: rs769310905
• ExAC: 12:102155544 G / GGAAATACTTTTTTTTCTCCCATGGC
• gnomAD v2: 12-102155544-G-GGAAATACTTTTTTTTCTCCCATGGC
• gnomAD v4: 12-101761766-G-GGAAATACTTTTTTTTCTCCCATGGC
• MyVariant Identifiers: chr12:g.102155544_102155545insGAAATACTTTTTTTTCTCCCATGGC (hg19) ; chr12:g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGC , CM000674.2:g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGC	GRCh38
NC_000012.11:g.102155544_102155545insGAAATACTTTTTTTTCTCCCATGGC , CM000674.1:g.102155544_102155545insGAAATACTTTTTTTTCTCCCATGGC	GRCh37
NC_000012.10:g.100679675_100679676insGAAATACTTTTTTTTCTCCCATGGC	NCBI36
NG_021243.1:g.74101_74102insGCCATGGGAGAAAAAAAAGTATTTC

Transcript Alleles

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