Canonical Allele Identifier: CA2058985210

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830712_101830715delinsGAGC , CM000674.2:g.101830712_101830715delinsGAGC	GRCh38
NC_000012.11:g.102224490_102224493delinsGAGC , CM000674.1:g.102224490_102224493delinsGAGC	GRCh37
NC_000012.10:g.100748621_100748624delinsGAGC	NCBI36
NG_021243.1:g.5153_5156delinsGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-40_-37delinsGCTC MANE Select	ENSP00000299314.7:n.-40_-37delinsGCTC
ENST00000299314.11:c.-40_-37delinsGCTC	ENSP00000299314.7:n.-40_-37delinsGCTC
ENST00000392919.4:c.-40_-37delinsGCTC	ENSP00000376651.4:n.-40_-37delinsGCTC
ENST00000549940.5:c.-40_-37delinsGCTC	ENSP00000449150.1:n.-40_-37delinsGCTC
NM_024312.4:c.-40_-37delinsGCTC	NP_077288.2:n.-40_-37delinsGCTC
XM_006719593.2:c.-40_-37delinsGCTC	XP_006719656.1:n.-40_-37delinsGCTC
XM_006719593.3:c.-40_-37delinsGCTC	XP_006719656.1:n.-40_-37delinsGCTC
XM_017019961.1:c.-189_-186delinsGCTC	XP_016875450.1:n.-189_-186delinsGCTC
XM_017019962.2:c.-1390_-1387delinsGCTC	XP_016875451.1:n.-1390_-1387delinsGCTC
NM_024312.5:c.-40_-37delinsGCTC MANE Select	NP_077288.2:n.-40_-37delinsGCTC