Canonical Allele Identifier: CA2579746169
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2786928_2786929del , CM000686.2:g.2786928_2786929del GRCh38
NC_000024.9:g.2654969_2654970del , CM000686.1:g.2654969_2654970del GRCh37
NC_000024.8:g.2714969_2714970del NCBI36
NG_011751.1:g.5824_5825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12189_106+12190del
ENST00000679825.1:n.107-67_107-66del
ENST00000680285.1:n.320-2821_320-2820del
ENST00000680845.1:n.107-67_107-66del
ENST00000681787.1:n.106+12189_106+12190del
ENST00000681940.1:n.106+12189_106+12190del
ENST00000383070.2:c.*61_*62del MANE Select ENSP00000372547.1:n.*61_*62del
ENST00000383070.1:c.*61_*62del ENSP00000372547.1:n.*61_*62del
NM_003140.2:c.*61_*62del NP_003131.1:n.*61_*62del
NM_003140.3:c.*61_*62del MANE Select NP_003131.1:n.*61_*62del