Canonical Allele Identifier: CA1242197215
Community Standard Title: NM_000348.4(SRD5A2):c.698+290_698+293delinsAAGG
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529014_31529017delinsCCTT , CM000664.2:g.31529014_31529017delinsCCTT GRCh38
NC_000002.11:g.31754084_31754087delinsCCTT , CM000664.1:g.31754084_31754087delinsCCTT GRCh37
NC_000002.10:g.31607588_31607591delinsCCTT NCBI36
NG_008365.1:g.56955_56958delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+290_698+293delinsAAGG MANE Select NP_000339.2:n.698+290_698+293delinsAAGG
ENST00000622030.2:c.698+290_698+293delinsAAGG MANE Select ENSP00000477587.1:n.698+290_698+293delinsAAGG
NM_000348.3:c.698+290_698+293delinsAAGG NP_000339.2:n.698+290_698+293delinsAAGG
ENST00000622030.1:c.698+290_698+293delinsAAGG ENSP00000477587.1:n.698+290_698+293delinsAAGG
XM_011533069.1:c.476+290_476+293delinsAAGG XP_011531371.1:n.476+290_476+293delinsAAGG
XM_011533069.2:c.476+290_476+293delinsAAGG XP_011531371.1:n.476+290_476+293delinsAAGG
XM_011533070.1:c.443+290_443+293delinsAAGG XP_011531372.1:n.443+290_443+293delinsAAGG
XM_011533071.1:c.443+290_443+293delinsAAGG XP_011531373.1:n.443+290_443+293delinsAAGG
XM_011533072.1:c.443+290_443+293delinsAAGG XP_011531374.1:n.443+290_443+293delinsAAGG
XM_011533072.2:c.443+290_443+293delinsAAGG XP_011531374.1:n.443+290_443+293delinsAAGG