Canonical Allele Identifier: CA2797214829

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770737_101770738insCACACCCAACAC , CM000674.2:g.101770737_101770738insCACACCCAACAC	GRCh38
NC_000012.11:g.102164515_102164516insCACACCCAACAC , CM000674.1:g.102164515_102164516insCACACCCAACAC	GRCh37
NC_000012.10:g.100688646_100688647insCACACCCAACAC	NCBI36
NG_021243.1:g.65130_65131insGTGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.934-153_934-152insGTGTTGGGTGTG MANE Select	ENSP00000299314.7:n.934-153_934-152insGTGTTGGGTGTG
ENST00000299314.11:c.934-153_934-152insGTGTTGGGTGTG	ENSP00000299314.7:n.934-153_934-152insGTGTTGGGTGTG
ENST00000549940.5:c.934-153_934-152insGTGTTGGGTGTG	ENSP00000449150.1:n.934-153_934-152insGTGTTGGGTGTG
NM_024312.4:c.934-153_934-152insGTGTTGGGTGTG	NP_077288.2:n.934-153_934-152insGTGTTGGGTGTG
XM_006719593.2:c.934-153_934-152insGTGTTGGGTGTG	XP_006719656.1:n.934-153_934-152insGTGTTGGGTGTG
XM_011538731.1:c.853-153_853-152insGTGTTGGGTGTG	XP_011537033.1:n.853-153_853-152insGTGTTGGGTGTG
XM_006719593.3:c.934-153_934-152insGTGTTGGGTGTG	XP_006719656.1:n.934-153_934-152insGTGTTGGGTGTG
XM_011538731.2:c.853-153_853-152insGTGTTGGGTGTG	XP_011537033.1:n.853-153_853-152insGTGTTGGGTGTG
XM_017019961.1:c.718-153_718-152insGTGTTGGGTGTG	XP_016875450.1:n.718-153_718-152insGTGTTGGGTGTG
XM_017019962.2:c.-417-30_-417-29insGTGTTGGGTGTG	XP_016875451.1:n.-417-30_-417-29insGTGTTGGGTGTG
NM_024312.5:c.934-153_934-152insGTGTTGGGTGTG MANE Select	NP_077288.2:n.934-153_934-152insGTGTTGGGTGTG