Canonical Allele Identifier: CA2575265208

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786305_101786306insA , CM000674.2:g.101786305_101786306insA	GRCh38
NC_000012.11:g.102180083_102180084insA , CM000674.1:g.102180083_102180084insA	GRCh37
NC_000012.10:g.100704214_100704215insA	NCBI36
NG_021243.1:g.49562_49563insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-89_366-88insT MANE Select	ENSP00000299314.7:n.366-89_366-88insT
ENST00000299314.11:c.366-89_366-88insT	ENSP00000299314.7:n.366-89_366-88insT
ENST00000549940.5:c.366-89_366-88insT	ENSP00000449150.1:n.366-89_366-88insT
ENST00000550352.1:n.160-89_160-88insT
NM_024312.4:c.366-89_366-88insT	NP_077288.2:n.366-89_366-88insT
XM_006719593.2:c.366-89_366-88insT	XP_006719656.1:n.366-89_366-88insT
XM_011538731.1:c.285-89_285-88insT	XP_011537033.1:n.285-89_285-88insT
XM_006719593.3:c.366-89_366-88insT	XP_006719656.1:n.366-89_366-88insT
XM_011538731.2:c.285-89_285-88insT	XP_011537033.1:n.285-89_285-88insT
XM_017019961.1:c.150-89_150-88insT	XP_016875450.1:n.150-89_150-88insT
XM_017019962.2:c.-985-89_-985-88insT	XP_016875451.1:n.-985-89_-985-88insT
NM_024312.5:c.366-89_366-88insT MANE Select	NP_077288.2:n.366-89_366-88insT