Canonical Allele Identifier: CA2695237531
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787379_2787380delinsAT , CM000686.2:g.2787379_2787380delinsAT GRCh38
NC_000024.9:g.2655420_2655421delinsAT , CM000686.1:g.2655420_2655421delinsAT GRCh37
NC_000024.8:g.2715420_2715421delinsAT NCBI36
NG_011751.1:g.5372_5373delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12640_106+12641delinsAT
ENST00000679825.1:n.491_492delinsAT
ENST00000680285.1:n.320-2370_320-2369delinsAT
ENST00000680845.1:n.166-101_166-100delinsAT
ENST00000681787.1:n.106+12640_106+12641delinsAT
ENST00000681940.1:n.106+12640_106+12641delinsAT
ENST00000383070.2:c.224_225delinsAT MANE Select ENSP00000372547.1:p.Arg75Asn
ENST00000383070.1:c.224_225delinsAT ENSP00000372547.1:p.Arg75Asn
NM_003140.2:c.224_225delinsAT NP_003131.1:p.Arg75Asn
NM_003140.3:c.224_225delinsAT MANE Select NP_003131.1:p.Arg75Asn