Canonical Allele Identifier: CA2547631335
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787371_2787372insCTTT , CM000686.2:g.2787371_2787372insCTTT GRCh38
NC_000024.9:g.2655412_2655413insCTTT , CM000686.1:g.2655412_2655413insCTTT GRCh37
NC_000024.8:g.2715412_2715413insCTTT NCBI36
NG_011751.1:g.5380_5381insAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12632_106+12633insCTTT
ENST00000679825.1:n.483_484insCTTT
ENST00000680285.1:n.320-2378_320-2377insCTTT
ENST00000680845.1:n.166-109_166-108insCTTT
ENST00000681787.1:n.106+12632_106+12633insCTTT
ENST00000681940.1:n.106+12632_106+12633insCTTT
ENST00000383070.2:c.232_233insAAAG MANE Select ENSP00000372547.1:p.Met78LysfsTer27
ENST00000383070.1:c.232_233insAAAG ENSP00000372547.1:p.Met78LysfsTer27
NM_003140.2:c.232_233insAAAG NP_003131.1:p.Met78LysfsTer27
NM_003140.3:c.232_233insAAAG MANE Select NP_003131.1:p.Met78LysfsTer27