Canonical Allele Identifier: CA2058964767

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785987_101785988delinsTA , CM000674.2:g.101785987_101785988delinsTA	GRCh38
NC_000012.11:g.102179765_102179766delinsTA , CM000674.1:g.102179765_102179766delinsTA	GRCh37
NC_000012.10:g.100703896_100703897delinsTA	NCBI36
NG_021243.1:g.49880_49881delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+24_571+25delinsTA MANE Select	ENSP00000299314.7:n.571+24_571+25delinsTA
ENST00000299314.11:c.571+24_571+25delinsTA	ENSP00000299314.7:n.571+24_571+25delinsTA
ENST00000549940.5:c.571+24_571+25delinsTA	ENSP00000449150.1:n.571+24_571+25delinsTA
ENST00000550352.1:n.389_390delinsTA
ENST00000552681.1:c.205+24_205+25delinsTA	ENSP00000449217.1:n.205+24_205+25delinsTA
NM_024312.4:c.571+24_571+25delinsTA	NP_077288.2:n.571+24_571+25delinsTA
XM_006719593.2:c.571+24_571+25delinsTA	XP_006719656.1:n.571+24_571+25delinsTA
XM_011538731.1:c.490+24_490+25delinsTA	XP_011537033.1:n.490+24_490+25delinsTA
XM_006719593.3:c.571+24_571+25delinsTA	XP_006719656.1:n.571+24_571+25delinsTA
XM_011538731.2:c.490+24_490+25delinsTA	XP_011537033.1:n.490+24_490+25delinsTA
XM_017019961.1:c.355+24_355+25delinsTA	XP_016875450.1:n.355+24_355+25delinsTA
XM_017019962.2:c.-780+24_-780+25delinsTA	XP_016875451.1:n.-780+24_-780+25delinsTA
NM_024312.5:c.571+24_571+25delinsTA MANE Select	NP_077288.2:n.571+24_571+25delinsTA