Canonical Allele Identifier: CA2739228517

Gene: SRY

Linked Data

• dbSNP Id: rs2124486196

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787363_2787364del , CM000686.2:g.2787363_2787364del	GRCh38
NC_000024.9:g.2655404_2655405del , CM000686.1:g.2655404_2655405del	GRCh37
NC_000024.8:g.2715404_2715405del	NCBI36
NG_011751.1:g.5391_5392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12624_106+12625del
ENST00000679825.1:n.475_476del
ENST00000680285.1:n.320-2386_320-2385del
ENST00000680845.1:n.166-117_166-116del
ENST00000681787.1:n.106+12624_106+12625del
ENST00000681940.1:n.106+12624_106+12625del
ENST00000383070.2:c.243_244del MANE Select	ENSP00000372547.1:p.Asn82SerfsTer21
ENST00000383070.1:c.243_244del	ENSP00000372547.1:p.Asn82SerfsTer21
NM_003140.2:c.243_244del	NP_003131.1:p.Asn82SerfsTer21
NM_003140.3:c.243_244del MANE Select	NP_003131.1:p.Asn82SerfsTer21