Canonical Allele Identifier: CA2058953212

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761728_101761734delinsGAAGTAT , CM000674.2:g.101761728_101761734delinsGAAGTAT	GRCh38
NC_000012.11:g.102155506_102155512delinsGAAGTAT , CM000674.1:g.102155506_102155512delinsGAAGTAT	GRCh37
NC_000012.10:g.100679637_100679643delinsGAAGTAT	NCBI36
NG_021243.1:g.74134_74140delinsATACTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2745_2751delinsATACTTC MANE Select	ENSP00000299314.7:p.Ala915=
ENST00000299314.11:c.2745_2751delinsATACTTC	ENSP00000299314.7:p.Ala915=
NM_024312.4:c.2745_2751delinsATACTTC	NP_077288.2:p.Ala915=
XM_006719593.2:c.2745_2751delinsATACTTC	XP_006719656.1:p.Ala915=
XM_011538731.1:c.2664_2670delinsATACTTC	XP_011537033.1:p.Ala888=
XM_006719593.3:c.2745_2751delinsATACTTC	XP_006719656.1:p.Ala915=
XM_011538731.2:c.2664_2670delinsATACTTC	XP_011537033.1:p.Ala888=
XM_017019961.1:c.2529_2535delinsATACTTC	XP_016875450.1:p.Ala843=
XM_017019962.2:c.1518_1524delinsATACTTC	XP_016875451.1:p.Ala506=
NM_024312.5:c.2745_2751delinsATACTTC MANE Select	NP_077288.2:p.Ala915=