Canonical Allele Identifier: CA2058953233

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761746_101761752delinsCTTCAAT , CM000674.2:g.101761746_101761752delinsCTTCAAT	GRCh38
NC_000012.11:g.102155524_102155530delinsCTTCAAT , CM000674.1:g.102155524_102155530delinsCTTCAAT	GRCh37
NC_000012.10:g.100679655_100679661delinsCTTCAAT	NCBI36
NG_021243.1:g.74116_74122delinsATTGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2727_2733delinsATTGAAG MANE Select	ENSP00000299314.7:p.Ser909=
ENST00000299314.11:c.2727_2733delinsATTGAAG	ENSP00000299314.7:p.Ser909=
NM_024312.4:c.2727_2733delinsATTGAAG	NP_077288.2:p.Ser909=
XM_006719593.2:c.2727_2733delinsATTGAAG	XP_006719656.1:p.Ser909=
XM_011538731.1:c.2646_2652delinsATTGAAG	XP_011537033.1:p.Ser882=
XM_006719593.3:c.2727_2733delinsATTGAAG	XP_006719656.1:p.Ser909=
XM_011538731.2:c.2646_2652delinsATTGAAG	XP_011537033.1:p.Ser882=
XM_017019961.1:c.2511_2517delinsATTGAAG	XP_016875450.1:p.Ser837=
XM_017019962.2:c.1500_1506delinsATTGAAG	XP_016875451.1:p.Ser500=
NM_024312.5:c.2727_2733delinsATTGAAG MANE Select	NP_077288.2:p.Ser909=