Canonical Allele Identifier: CA2058957906

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770213_101770217delinsAAAAG , CM000674.2:g.101770213_101770217delinsAAAAG	GRCh38
NC_000012.11:g.102163991_102163995delinsAAAAG , CM000674.1:g.102163991_102163995delinsAAAAG	GRCh37
NC_000012.10:g.100688122_100688126delinsAAAAG	NCBI36
NG_021243.1:g.65651_65655delinsCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1114-26_1114-22delinsCTTTT MANE Select	ENSP00000299314.7:n.1114-26_1114-22delinsCTTTT
ENST00000299314.11:c.1114-26_1114-22delinsCTTTT	ENSP00000299314.7:n.1114-26_1114-22delinsCTTTT
ENST00000549940.5:c.1114-26_1114-22delinsCTTTT	ENSP00000449150.1:n.1114-26_1114-22delinsCTTTT
NM_024312.4:c.1114-26_1114-22delinsCTTTT	NP_077288.2:n.1114-26_1114-22delinsCTTTT
XM_006719593.2:c.1114-26_1114-22delinsCTTTT	XP_006719656.1:n.1114-26_1114-22delinsCTTTT
XM_011538731.1:c.1033-26_1033-22delinsCTTTT	XP_011537033.1:n.1033-26_1033-22delinsCTTTT
XM_006719593.3:c.1114-26_1114-22delinsCTTTT	XP_006719656.1:n.1114-26_1114-22delinsCTTTT
XM_011538731.2:c.1033-26_1033-22delinsCTTTT	XP_011537033.1:n.1033-26_1033-22delinsCTTTT
XM_017019961.1:c.898-26_898-22delinsCTTTT	XP_016875450.1:n.898-26_898-22delinsCTTTT
XM_017019962.2:c.-114-26_-114-22delinsCTTTT	XP_016875451.1:n.-114-26_-114-22delinsCTTTT
NM_024312.5:c.1114-26_1114-22delinsCTTTT MANE Select	NP_077288.2:n.1114-26_1114-22delinsCTTTT