Canonical Allele Identifier: CA2058964917

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786304_101786305delinsAT , CM000674.2:g.101786304_101786305delinsAT	GRCh38
NC_000012.11:g.102180082_102180083delinsAT , CM000674.1:g.102180082_102180083delinsAT	GRCh37
NC_000012.10:g.100704213_100704214delinsAT	NCBI36
NG_021243.1:g.49563_49564delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-88_366-87delinsAT MANE Select	ENSP00000299314.7:n.366-88_366-87delinsAT
ENST00000299314.11:c.366-88_366-87delinsAT	ENSP00000299314.7:n.366-88_366-87delinsAT
ENST00000549940.5:c.366-88_366-87delinsAT	ENSP00000449150.1:n.366-88_366-87delinsAT
ENST00000550352.1:n.160-88_160-87delinsAT
NM_024312.4:c.366-88_366-87delinsAT	NP_077288.2:n.366-88_366-87delinsAT
XM_006719593.2:c.366-88_366-87delinsAT	XP_006719656.1:n.366-88_366-87delinsAT
XM_011538731.1:c.285-88_285-87delinsAT	XP_011537033.1:n.285-88_285-87delinsAT
XM_006719593.3:c.366-88_366-87delinsAT	XP_006719656.1:n.366-88_366-87delinsAT
XM_011538731.2:c.285-88_285-87delinsAT	XP_011537033.1:n.285-88_285-87delinsAT
XM_017019961.1:c.150-88_150-87delinsAT	XP_016875450.1:n.150-88_150-87delinsAT
XM_017019962.2:c.-985-88_-985-87delinsAT	XP_016875451.1:n.-985-88_-985-87delinsAT
NM_024312.5:c.366-88_366-87delinsAT MANE Select	NP_077288.2:n.366-88_366-87delinsAT