Canonical Allele Identifier: CA2058957998

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770481_101770483delinsAAT , CM000674.2:g.101770481_101770483delinsAAT	GRCh38
NC_000012.11:g.102164259_102164261delinsAAT , CM000674.1:g.102164259_102164261delinsAAT	GRCh37
NC_000012.10:g.100688390_100688392delinsAAT	NCBI36
NG_021243.1:g.65385_65387delinsATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1036_1038delinsATT MANE Select	ENSP00000299314.7:p.Ile346=
ENST00000299314.11:c.1036_1038delinsATT	ENSP00000299314.7:p.Ile346=
ENST00000549940.5:c.1036_1038delinsATT	ENSP00000449150.1:p.Ile346=
NM_024312.4:c.1036_1038delinsATT	NP_077288.2:p.Ile346=
XM_006719593.2:c.1036_1038delinsATT	XP_006719656.1:p.Ile346=
XM_011538731.1:c.955_957delinsATT	XP_011537033.1:p.Ile319=
XM_006719593.3:c.1036_1038delinsATT	XP_006719656.1:p.Ile346=
XM_011538731.2:c.955_957delinsATT	XP_011537033.1:p.Ile319=
XM_017019961.1:c.820_822delinsATT	XP_016875450.1:p.Ile274=
XM_017019962.2:c.-192_-190delinsATT	XP_016875451.1:n.-192_-190delinsATT
NM_024312.5:c.1036_1038delinsATT MANE Select	NP_077288.2:p.Ile346=