Canonical Allele Identifier: CA2797215222

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786284_101786286del , CM000674.2:g.101786284_101786286del	GRCh38
NC_000012.11:g.102180062_102180064del , CM000674.1:g.102180062_102180064del	GRCh37
NC_000012.10:g.100704193_100704195del	NCBI36
NG_021243.1:g.49583_49585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-68_366-66del MANE Select	ENSP00000299314.7:n.366-68_366-66del
ENST00000299314.11:c.366-68_366-66del	ENSP00000299314.7:n.366-68_366-66del
ENST00000549940.5:c.366-68_366-66del	ENSP00000449150.1:n.366-68_366-66del
ENST00000550352.1:n.160-68_160-66del
NM_024312.4:c.366-68_366-66del	NP_077288.2:n.366-68_366-66del
XM_006719593.2:c.366-68_366-66del	XP_006719656.1:n.366-68_366-66del
XM_011538731.1:c.285-68_285-66del	XP_011537033.1:n.285-68_285-66del
XM_006719593.3:c.366-68_366-66del	XP_006719656.1:n.366-68_366-66del
XM_011538731.2:c.285-68_285-66del	XP_011537033.1:n.285-68_285-66del
XM_017019961.1:c.150-68_150-66del	XP_016875450.1:n.150-68_150-66del
XM_017019962.2:c.-985-68_-985-66del	XP_016875451.1:n.-985-68_-985-66del
NM_024312.5:c.366-68_366-66del MANE Select	NP_077288.2:n.366-68_366-66del