Canonical Allele Identifier: CA2058958024

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770527_101770528delinsTA , CM000674.2:g.101770527_101770528delinsTA	GRCh38
NC_000012.11:g.102164305_102164306delinsTA , CM000674.1:g.102164305_102164306delinsTA	GRCh37
NC_000012.10:g.100688436_100688437delinsTA	NCBI36
NG_021243.1:g.65340_65341delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.991_992delinsTA MANE Select	ENSP00000299314.7:p.Tyr331=
ENST00000299314.11:c.991_992delinsTA	ENSP00000299314.7:p.Tyr331=
ENST00000549940.5:c.991_992delinsTA	ENSP00000449150.1:p.Tyr331=
NM_024312.4:c.991_992delinsTA	NP_077288.2:p.Tyr331=
XM_006719593.2:c.991_992delinsTA	XP_006719656.1:p.Tyr331=
XM_011538731.1:c.910_911delinsTA	XP_011537033.1:p.Tyr304=
XM_006719593.3:c.991_992delinsTA	XP_006719656.1:p.Tyr331=
XM_011538731.2:c.910_911delinsTA	XP_011537033.1:p.Tyr304=
XM_017019961.1:c.775_776delinsTA	XP_016875450.1:p.Tyr259=
XM_017019962.2:c.-237_-236delinsTA	XP_016875451.1:n.-237_-236delinsTA
NM_024312.5:c.991_992delinsTA MANE Select	NP_077288.2:p.Tyr331=