Canonical Allele Identifier: CA2549634875
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787375_2787378del , CM000686.2:g.2787375_2787378del GRCh38
NC_000024.9:g.2655416_2655419del , CM000686.1:g.2655416_2655419del GRCh37
NC_000024.8:g.2715416_2715419del NCBI36
NG_011751.1:g.5374_5377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12636_106+12639del
ENST00000679825.1:n.487_490del
ENST00000680285.1:n.320-2374_320-2371del
ENST00000680845.1:n.166-105_166-102del
ENST00000681787.1:n.106+12636_106+12639del
ENST00000681940.1:n.106+12636_106+12639del
ENST00000383070.2:c.226_229del MANE Select ENSP00000372547.1:p.Lys77TrpfsTer3
ENST00000383070.1:c.226_229del ENSP00000372547.1:p.Lys77TrpfsTer3
NM_003140.2:c.226_229del NP_003131.1:p.Lys77TrpfsTer3
NM_003140.3:c.226_229del MANE Select NP_003131.1:p.Lys77TrpfsTer3