Canonical Allele Identifier: CA2058964924

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786325_101786328delinsAATG , CM000674.2:g.101786325_101786328delinsAATG	GRCh38
NC_000012.11:g.102180103_102180106delinsAATG , CM000674.1:g.102180103_102180106delinsAATG	GRCh37
NC_000012.10:g.100704234_100704237delinsAATG	NCBI36
NG_021243.1:g.49540_49543delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-111_366-108delinsCATT MANE Select	ENSP00000299314.7:n.366-111_366-108delinsCATT
ENST00000299314.11:c.366-111_366-108delinsCATT	ENSP00000299314.7:n.366-111_366-108delinsCATT
ENST00000549940.5:c.366-111_366-108delinsCATT	ENSP00000449150.1:n.366-111_366-108delinsCATT
ENST00000550352.1:n.160-111_160-108delinsCATT
NM_024312.4:c.366-111_366-108delinsCATT	NP_077288.2:n.366-111_366-108delinsCATT
XM_006719593.2:c.366-111_366-108delinsCATT	XP_006719656.1:n.366-111_366-108delinsCATT
XM_011538731.1:c.285-111_285-108delinsCATT	XP_011537033.1:n.285-111_285-108delinsCATT
XM_006719593.3:c.366-111_366-108delinsCATT	XP_006719656.1:n.366-111_366-108delinsCATT
XM_011538731.2:c.285-111_285-108delinsCATT	XP_011537033.1:n.285-111_285-108delinsCATT
XM_017019961.1:c.150-111_150-108delinsCATT	XP_016875450.1:n.150-111_150-108delinsCATT
XM_017019962.2:c.-985-111_-985-108delinsCATT	XP_016875451.1:n.-985-111_-985-108delinsCATT
NM_024312.5:c.366-111_366-108delinsCATT MANE Select	NP_077288.2:n.366-111_366-108delinsCATT