Canonical Allele Identifier: CA3051355414

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787295_2787296insACAAGTCGGACAA , CM000686.2:g.2787295_2787296insACAAGTCGGACAA	GRCh38
NC_000024.9:g.2655336_2655337insACAAGTCGGACAA , CM000686.1:g.2655336_2655337insACAAGTCGGACAA	GRCh37
NC_000024.8:g.2715336_2715337insACAAGTCGGACAA	NCBI36
NG_011751.1:g.5456_5457insTTGTCCGACTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12556_106+12557insACAAGTCGGACAA
ENST00000679825.1:n.407_408insACAAGTCGGACAA
ENST00000680285.1:n.320-2454_320-2453insACAAGTCGGACAA
ENST00000680845.1:n.166-185_166-184insACAAGTCGGACAA
ENST00000681787.1:n.106+12556_106+12557insACAAGTCGGACAA
ENST00000681940.1:n.106+12556_106+12557insACAAGTCGGACAA
ENST00000383070.2:c.308_309insTTGTCCGACTTGT MANE Select	ENSP00000372547.1:p.Glu103AspfsTer30
ENST00000383070.1:c.308_309insTTGTCCGACTTGT	ENSP00000372547.1:p.Glu103AspfsTer30
NM_003140.2:c.308_309insTTGTCCGACTTGT	NP_003131.1:p.Glu103AspfsTer30
NM_003140.3:c.308_309insTTGTCCGACTTGT MANE Select	NP_003131.1:p.Glu103AspfsTer30