Canonical Allele Identifier: CA2579746174
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787101_2787106del , CM000686.2:g.2787101_2787106del GRCh38
NC_000024.9:g.2655142_2655147del , CM000686.1:g.2655142_2655147del GRCh37
NC_000024.8:g.2715142_2715147del NCBI36
NG_011751.1:g.5647_5652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12362_106+12367del
ENST00000679825.1:n.213_218del
ENST00000680285.1:n.320-2648_320-2643del
ENST00000680845.1:n.165+48_165+53del
ENST00000681787.1:n.106+12362_106+12367del
ENST00000681940.1:n.106+12362_106+12367del
ENST00000383070.2:c.499_504del MANE Select ENSP00000372547.1:p.Asp167_Cys168del
ENST00000383070.1:c.499_504del ENSP00000372547.1:p.Asp167_Cys168del
NM_003140.2:c.499_504del NP_003131.1:p.Asp167_Cys168del
NM_003140.3:c.499_504del MANE Select NP_003131.1:p.Asp167_Cys168del