Canonical Allele Identifier: CA2620449385

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830543-C-CGGCGCCGCAGCCTGGACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830551_101830552insAGCCTGGACCGGGCGCCGC , CM000674.2:g.101830551_101830552insAGCCTGGACCGGGCGCCGC	GRCh38
NC_000012.11:g.102224329_102224330insAGCCTGGACCGGGCGCCGC , CM000674.1:g.102224329_102224330insAGCCTGGACCGGGCGCCGC	GRCh37
NC_000012.10:g.100748460_100748461insAGCCTGGACCGGGCGCCGC	NCBI36
NG_021243.1:g.5324_5325insCGGTCCAGGCTGCGGCGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC MANE Select	ENSP00000299314.7:n.117+15_117+16insCGGTC...
ENST00000647144.1:n.105+15_105+16insCGGTCCAGGCTGCGGCGCC
ENST00000299314.11:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC	ENSP00000299314.7:n.117+15_117+16insCGGTC...
ENST00000392919.4:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC	ENSP00000376651.4:n.117+15_117+16insCGGTC...
ENST00000549165.1:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC	ENSP00000450413.1:n.117+15_117+16insCGGTC...
ENST00000549940.5:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC	ENSP00000449150.1:n.117+15_117+16insCGGTC...
NM_024312.4:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC	NP_077288.2:n.117+15_117+16insCGGTCCAGGCT...
XM_006719593.2:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC	XP_006719656.1:n.117+15_117+16insCGGTCCAG...
XM_006719593.3:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC	XP_006719656.1:n.117+15_117+16insCGGTCCAG...
XM_017019961.1:c.-100+82_-100+83insCGGTCCAGGCTGCGGCGCC	XP_016875450.1:n.-100+82_-100+83insCGGTCC...
XM_017019962.2:c.-1234+15_-1234+16insCGGTCCAGGCTGCGGCGCC	XP_016875451.1:n.-1234+15_-1234+16insCGGT...
NM_024312.5:c.117+15_117+16insCGGTCCAGGCTGCGGCGCC MANE Select	NP_077288.2:n.117+15_117+16insCGGTCCAGGCT...