Canonical Allele Identifier: CA1242215021
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31568238_31568241delinsCCTT , CM000664.2:g.31568238_31568241delinsCCTT GRCh38
NC_000002.11:g.31793308_31793311delinsCCTT , CM000664.1:g.31793308_31793311delinsCCTT GRCh37
NC_000002.10:g.31646812_31646815delinsCCTT NCBI36
NG_008365.1:g.17731_17734delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+12379_281+12382delinsAAGG MANE Select ENSP00000477587.1:n.281+12379_281+12382delinsAAGG
ENST00000622030.1:c.281+12379_281+12382delinsAAGG ENSP00000477587.1:n.281+12379_281+12382delinsAAGG
NM_000348.3:c.281+12379_281+12382delinsAAGG NP_000339.2:n.281+12379_281+12382delinsAAGG
XM_011533068.1:c.281+12379_281+12382delinsAAGG XP_011531370.1:n.281+12379_281+12382delinsAAGG
XM_011533070.1:c.27-34475_27-34472delinsAAGG XP_011531372.1:n.27-34475_27-34472delinsAAGG
XM_011533071.1:c.27-34475_27-34472delinsAAGG XP_011531373.1:n.27-34475_27-34472delinsAAGG
XM_011533072.1:c.27-34475_27-34472delinsAAGG XP_011531374.1:n.27-34475_27-34472delinsAAGG
XM_011533072.2:c.27-34475_27-34472delinsAAGG XP_011531374.1:n.27-34475_27-34472delinsAAGG
NM_000348.4:c.281+12379_281+12382delinsAAGG MANE Select NP_000339.2:n.281+12379_281+12382delinsAAGG