Canonical Allele Identifier: CA658659093

Gene: SRY

Linked Data

• ClinVar Variation Id: 470195
• ClinVar RCV Id: RCV000528652
• dbSNP Id: rs1556370556
• MyVariant Identifiers: chrY:g.2655381dup (hg19) ; chrY:g.2787340dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787340dup , CM000686.2:g.2787340dup	GRCh38
NC_000024.9:g.2655381dup , CM000686.1:g.2655381dup	GRCh37
NC_000024.8:g.2715381dup	NCBI36
NG_011751.1:g.5412dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12601dup
ENST00000679825.1:n.452dup
ENST00000680285.1:n.320-2409dup
ENST00000680845.1:n.166-140dup
ENST00000681787.1:n.106+12601dup
ENST00000681940.1:n.106+12601dup
ENST00000383070.2:c.264dup MANE Select	ENSP00000372547.1:p.Glu89ArgfsTer15
ENST00000383070.1:c.264dup	ENSP00000372547.1:p.Glu89ArgfsTer15
NM_003140.2:c.264dup	NP_003131.1:p.Glu89ArgfsTer15
NM_003140.3:c.264dup MANE Select	NP_003131.1:p.Glu89ArgfsTer15