Canonical Allele Identifier: CA2766266498
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787119_2787120insAAC , CM000686.2:g.2787119_2787120insAAC GRCh38
NC_000024.9:g.2655160_2655161insAAC , CM000686.1:g.2655160_2655161insAAC GRCh37
NC_000024.8:g.2715160_2715161insAAC NCBI36
NG_011751.1:g.5633_5634insTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12380_106+12381insAAC
ENST00000679825.1:n.231_232insAAC
ENST00000680285.1:n.320-2630_320-2629insAAC
ENST00000680845.1:n.165+66_165+67insAAC
ENST00000681787.1:n.106+12380_106+12381insAAC
ENST00000681940.1:n.106+12380_106+12381insAAC
ENST00000383070.2:c.485_486insTTG MANE Select ENSP00000372547.1:p.Arg162delinsSerTrp
ENST00000383070.1:c.485_486insTTG ENSP00000372547.1:p.Arg162delinsSerTrp
NM_003140.2:c.485_486insTTG NP_003131.1:p.Arg162delinsSerTrp
NM_003140.3:c.485_486insTTG MANE Select NP_003131.1:p.Arg162delinsSerTrp