Canonical Allele Identifier: CA254864
Gene: SRY HGNC NCBI

Linked Data

ClinVar Variation Id: 9737
ClinVar RCV Id: RCV000010390
dbSNP Id: rs606231178
MyVariant Identifiers: chrY:g.2655278_2655281del (hg19) chrY:g.2787237_2787240del (hg38)
PubMed: PMID:1339396 PMID:2247151
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787240_2787243del , CM000686.2:g.2787240_2787243del GRCh38
NC_000024.9:g.2655281_2655284del , CM000686.1:g.2655281_2655284del GRCh37
NC_000024.8:g.2715281_2715284del NCBI36
NG_011751.1:g.5512_5515del

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12501_106+12504del
ENST00000679825.1:n.352_355del
ENST00000680285.1:n.320-2509_320-2506del
ENST00000680845.1:n.165+187_165+190del
ENST00000681787.1:n.106+12501_106+12504del
ENST00000681940.1:n.106+12501_106+12504del
ENST00000383070.2:c.364_367del MANE Select ENSP00000372547.1:p.Glu122AsnfsTer?
ENST00000383070.1:c.364_367del ENSP00000372547.1:p.Glu122AsnfsTer?
NM_003140.2:c.364_367del NP_003131.1:p.Glu122AsnfsTer?
NM_003140.3:c.364_367del MANE Select NP_003131.1:p.Glu122AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'