Canonical Allele Identifier: CA2797209666

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757172_101757179del , CM000674.2:g.101757172_101757179del	GRCh38
NC_000012.11:g.102150950_102150957del , CM000674.1:g.102150950_102150957del	GRCh37
NC_000012.10:g.100675081_100675088del	NCBI36
NG_021243.1:g.78690_78697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3434+34_3434+41del MANE Select	ENSP00000299314.7:n.3434+34_3434+41del
ENST00000299314.11:c.3434+34_3434+41del	ENSP00000299314.7:n.3434+34_3434+41del
ENST00000549194.1:n.334_341del
ENST00000549738.5:c.185+34_185+41del	ENSP00000450161.1:n.185+34_185+41del
ENST00000550718.1:c.246+34_246+41del
NM_024312.4:c.3434+34_3434+41del	NP_077288.2:n.3434+34_3434+41del
XM_006719593.2:c.3434+34_3434+41del	XP_006719656.1:n.3434+34_3434+41del
XM_011538731.1:c.3353+34_3353+41del	XP_011537033.1:n.3353+34_3353+41del
XM_006719593.3:c.3434+34_3434+41del	XP_006719656.1:n.3434+34_3434+41del
XM_011538731.2:c.3353+34_3353+41del	XP_011537033.1:n.3353+34_3353+41del
XM_017019961.1:c.3218+34_3218+41del	XP_016875450.1:n.3218+34_3218+41del
XM_017019962.2:c.2207+34_2207+41del	XP_016875451.1:n.2207+34_2207+41del
NM_024312.5:c.3434+34_3434+41del MANE Select	NP_077288.2:n.3434+34_3434+41del