Canonical Allele Identifier: CA1779778033

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43200671_43200673delinsCAG , CM000670.2:g.43200671_43200673delinsCAG	GRCh38
NC_000008.10:g.43055814_43055816delinsCAG , CM000670.1:g.43055814_43055816delinsCAG	GRCh37
NC_000008.9:g.43174971_43174973delinsCAG	NCBI36
NG_009552.1:g.65223_65225delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.*1102_*1104delinsCAG MANE Select	ENSP00000368965.4:n.*1102_*1104delinsCAG
ENST00000379644.8:c.*1102_*1104delinsCAG	ENSP00000368965.4:n.*1102_*1104delinsCAG
NM_152419.2:c.*1102_*1104delinsCAG	NP_689632.2:n.*1102_*1104delinsCAG
XM_005273409.1:c.*1102_*1104delinsCAG	XP_005273466.1:n.*1102_*1104delinsCAG
XM_005273410.1:c.*1102_*1104delinsCAG	XP_005273467.1:n.*1102_*1104delinsCAG
XM_005273411.1:c.*1102_*1104delinsCAG	XP_005273468.1:n.*1102_*1104delinsCAG
NM_001363227.1:c.*1102_*1104delinsCAG	NP_001350156.1:n.*1102_*1104delinsCAG
NM_001363228.1:c.*1102_*1104delinsCAG	NP_001350157.1:n.*1102_*1104delinsCAG
NM_001363229.1:c.*1102_*1104delinsCAG	NP_001350158.1:n.*1102_*1104delinsCAG
NM_152419.3:c.*1102_*1104delinsCAG MANE Select	NP_689632.2:n.*1102_*1104delinsCAG
NM_001363227.2:c.*1102_*1104delinsCAG	NP_001350156.1:n.*1102_*1104delinsCAG
NM_001363228.2:c.*1102_*1104delinsCAG	NP_001350157.1:n.*1102_*1104delinsCAG
NM_001363229.2:c.*1102_*1104delinsCAG	NP_001350158.1:n.*1102_*1104delinsCAG