Canonical Allele Identifier: CA2058954198

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760046_101760047delinsTA , CM000674.2:g.101760046_101760047delinsTA	GRCh38
NC_000012.11:g.102153824_102153825delinsTA , CM000674.1:g.102153824_102153825delinsTA	GRCh37
NC_000012.10:g.100677955_100677956delinsTA	NCBI36
NG_021243.1:g.75821_75822delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3232_3233delinsTA MANE Select	ENSP00000299314.7:p.Tyr1078=
ENST00000299314.11:c.3232_3233delinsTA	ENSP00000299314.7:p.Tyr1078=
ENST00000549194.1:n.98_99delinsTA
ENST00000550718.1:c.44_45delinsTA
NM_024312.4:c.3232_3233delinsTA	NP_077288.2:p.Tyr1078=
XM_006719593.2:c.3232_3233delinsTA	XP_006719656.1:p.Tyr1078=
XM_011538731.1:c.3151_3152delinsTA	XP_011537033.1:p.Tyr1051=
XM_006719593.3:c.3232_3233delinsTA	XP_006719656.1:p.Tyr1078=
XM_011538731.2:c.3151_3152delinsTA	XP_011537033.1:p.Tyr1051=
XM_017019961.1:c.3016_3017delinsTA	XP_016875450.1:p.Tyr1006=
XM_017019962.2:c.2005_2006delinsTA	XP_016875451.1:p.Tyr669=
NM_024312.5:c.3232_3233delinsTA MANE Select	NP_077288.2:p.Tyr1078=