Canonical Allele Identifier: CA2575265330

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830733_101830737del , CM000674.2:g.101830733_101830737del	GRCh38
NC_000012.11:g.102224511_102224515del , CM000674.1:g.102224511_102224515del	GRCh37
NC_000012.10:g.100748642_100748646del	NCBI36
NG_021243.1:g.5131_5135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-62_-58del MANE Select	ENSP00000299314.7:n.-62_-58del
ENST00000299314.11:c.-62_-58del	ENSP00000299314.7:n.-62_-58del
ENST00000392919.4:c.-62_-58del	ENSP00000376651.4:n.-62_-58del
ENST00000549940.5:c.-62_-58del	ENSP00000449150.1:n.-62_-58del
NM_024312.4:c.-62_-58del	NP_077288.2:n.-62_-58del
XM_006719593.2:c.-62_-58del	XP_006719656.1:n.-62_-58del
XM_006719593.3:c.-62_-58del	XP_006719656.1:n.-62_-58del
XM_017019961.1:c.-211_-207del	XP_016875450.1:n.-211_-207del
XM_017019962.2:c.-1412_-1408del	XP_016875451.1:n.-1412_-1408del
NM_024312.5:c.-62_-58del MANE Select	NP_077288.2:n.-62_-58del