Canonical Allele Identifier: CA2695237527

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787360del , CM000686.2:g.2787360del	GRCh38
NC_000024.9:g.2655401del , CM000686.1:g.2655401del	GRCh37
NC_000024.8:g.2715401del	NCBI36
NG_011751.1:g.5393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12621del
ENST00000679825.1:n.472del
ENST00000680285.1:n.320-2389del
ENST00000680845.1:n.166-120del
ENST00000681787.1:n.106+12621del
ENST00000681940.1:n.106+12621del
ENST00000383070.2:c.245del MANE Select	ENSP00000372547.1:p.Asn82IlefsTer?
ENST00000383070.1:c.245del	ENSP00000372547.1:p.Asn82IlefsTer?
NM_003140.2:c.245del	NP_003131.1:p.Asn82IlefsTer?
NM_003140.3:c.245del MANE Select	NP_003131.1:p.Asn82IlefsTer?