Canonical Allele Identifier: CA2582342601
Community Standard Title: NC_000016.10:g.81082794_81084654dup
Gene: GCSH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81082794_81084654dup , CM000678.2:g.81082794_81084654dup GRCh38
NC_000016.9:g.81116399_81118259dup , CM000678.1:g.81116399_81118259dup GRCh37
NC_000016.8:g.79673900_79675760dup NCBI36
NG_016427.1:g.16722_18582dup , LRG_541:g.16722_18582dup

Transcript Alleles

HGVS Amino-acid Change
NM_004483.4:c.293-60_*72dup , LRG_541t1:c.293-60_*72dup
NM_004483.5:c.293-60_*72dup
NR_033249.1:n.326-60_627dup
NR_033249.2:n.346-60_647dup
ENST00000315467.7:c.293-60_*72dup
ENST00000315467.9:c.293-60_*72dup
ENST00000564386.5:c.213-60_514dup
ENST00000564386.6:c.216-60_517dup
ENST00000564536.2:c.293-60_424+1669dup
ENST00000569885.5:c.191-1691_360dup
ENST00000569885.6:c.191-1691_360dup
ENST00000638192.1:c.131+11477_131+13337dup
ENST00000638948.1:c.248-60_379+1669dup
ENST00000639137.1:n.726-60_1027dup
ENST00000639169.1:c.293-60_*1604dup
ENST00000639689.1:c.*36-60_*1836dup
ENST00000640150.1:c.133-120_374dup
ENST00000640345.1:c.293-60_424+1669dup
ENST00000640370.1:c.293-60_424+1669dup
XM_017023136.2:c.293-60_*72dup
XM_017023137.1:c.239-60_*72dup