Canonical Allele Identifier: CA2739228260
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486100

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787311del , CM000686.2:g.2787311del GRCh38
NC_000024.9:g.2655352del , CM000686.1:g.2655352del GRCh37
NC_000024.8:g.2715352del NCBI36
NG_011751.1:g.5442del

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12572del
ENST00000679825.1:n.423del
ENST00000680285.1:n.320-2438del
ENST00000680845.1:n.166-169del
ENST00000681787.1:n.106+12572del
ENST00000681940.1:n.106+12572del
ENST00000383070.2:c.294del MANE Select ENSP00000372547.1:p.Trp98Ter
ENST00000383070.1:c.294del ENSP00000372547.1:p.Trp98Ter
NM_003140.2:c.294del NP_003131.1:p.Trp98Ter
NM_003140.3:c.294del MANE Select NP_003131.1:p.Trp98Ter