Canonical Allele Identifier: CA2695237536

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787567dup , CM000686.2:g.2787567dup	GRCh38
NC_000024.9:g.2655608dup , CM000686.1:g.2655608dup	GRCh37
NC_000024.8:g.2715608dup	NCBI36
NG_011751.1:g.5186dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+12828dup
ENST00000679825.1:n.679dup
ENST00000680285.1:n.320-2182dup
ENST00000680845.1:n.253dup
ENST00000681787.1:n.106+12828dup
ENST00000681940.1:n.106+12828dup
ENST00000383070.2:c.38dup MANE Select	ENSP00000372547.1:p.Asn13LysfsTer4
ENST00000383070.1:c.38dup	ENSP00000372547.1:p.Asn13LysfsTer4
NM_003140.2:c.38dup	NP_003131.1:p.Asn13LysfsTer4
NM_003140.3:c.38dup MANE Select	NP_003131.1:p.Asn13LysfsTer4