Canonical Allele Identifier: CA915941294
Community Standard Title: NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415ValfsTer11)
Gene: DHCR24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54853593_54853594insTGGAC , CM000663.2:g.54853593_54853594insTGGAC GRCh38
NC_000001.10:g.55319266_55319267insTGGAC , CM000663.1:g.55319266_55319267insTGGAC GRCh37
NC_000001.9:g.55091854_55091855insTGGAC NCBI36
NG_008839.1:g.38659_38660insAGTCC

Transcript Alleles

HGVS Amino-acid Change
NM_014762.4:c.1241_1242insAGTCC MANE Select NP_055577.1:p.Phe415ValfsTer11
ENST00000371269.9:c.1241_1242insAGTCC MANE Select ENSP00000360316.3:p.Phe415ValfsTer11
NM_014762.3:c.1241_1242insAGTCC NP_055577.1:p.Phe415ValfsTer11
ENST00000371269.7:c.1241_1242insAGTCC ENSP00000360316.3:p.Phe415ValfsTer11
ENST00000436604.1:c.153_154insAGTCC
ENST00000436604.2:c.1241_1242insAGTCC ENSP00000416585.2:p.Phe415ValfsTer11
ENST00000535035.5:c.974_975insAGTCC ENSP00000440191.2:p.Phe326ValfsTer11
ENST00000535035.6:c.1277_1278insAGTCC ENSP00000440191.3:p.Phe427ValfsTer11
ENST00000647585.1:n.1045_1046insAGTCC
ENST00000647912.1:c.*876_*877insAGTCC ENSP00000497559.1:n.*876_*877insAGTCC
ENST00000648712.1:n.1359_1360insAGTCC
ENST00000648728.1:c.*896_*897insAGTCC ENSP00000497084.1:n.*896_*897insAGTCC
ENST00000649769.1:c.*896_*897insAGTCC ENSP00000498012.1:n.*896_*897insAGTCC