Canonical Allele Identifier: CA1242197212
Community Standard Title: NM_000348.4(SRD5A2):c.698+295_698+296delinsTG
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529011_31529012delinsCA , CM000664.2:g.31529011_31529012delinsCA GRCh38
NC_000002.11:g.31754081_31754082delinsCA , CM000664.1:g.31754081_31754082delinsCA GRCh37
NC_000002.10:g.31607585_31607586delinsCA NCBI36
NG_008365.1:g.56960_56961delinsTG

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+295_698+296delinsTG MANE Select NP_000339.2:n.698+295_698+296delinsTG
ENST00000622030.2:c.698+295_698+296delinsTG MANE Select ENSP00000477587.1:n.698+295_698+296delinsTG
NM_000348.3:c.698+295_698+296delinsTG NP_000339.2:n.698+295_698+296delinsTG
ENST00000622030.1:c.698+295_698+296delinsTG ENSP00000477587.1:n.698+295_698+296delinsTG
XM_011533069.1:c.476+295_476+296delinsTG XP_011531371.1:n.476+295_476+296delinsTG
XM_011533069.2:c.476+295_476+296delinsTG XP_011531371.1:n.476+295_476+296delinsTG
XM_011533070.1:c.443+295_443+296delinsTG XP_011531372.1:n.443+295_443+296delinsTG
XM_011533071.1:c.443+295_443+296delinsTG XP_011531373.1:n.443+295_443+296delinsTG
XM_011533072.1:c.443+295_443+296delinsTG XP_011531374.1:n.443+295_443+296delinsTG
XM_011533072.2:c.443+295_443+296delinsTG XP_011531374.1:n.443+295_443+296delinsTG