Canonical Allele Identifier: CA2842489484
Gene: SCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50525736_50525737del , CM000684.2:g.50525736_50525737del GRCh38
NC_000022.10:g.50964165_50964166del , CM000684.1:g.50964165_50964166del GRCh37
NC_000022.9:g.49311031_49311032del NCBI36
NG_011860.1:g.9350_9351del , LRG_727:g.9350_9351del
NG_016235.1:g.5704_5705del
NG_021419.1:g.22521_22522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000543927.6:c.-14+510_-14+511del ENSP00000444433.1:n.-14+510_-14+511del
ENST00000638598.2:c.-14+265_-14+266del ENSP00000491753.2:n.-14+265_-14+266del
ENST00000423348.1:c.-14+510_-14+511del ENSP00000403570.1:n.-14+510_-14+511del
ENST00000439934.5:c.-14+265_-14+266del ENSP00000415642.1:n.-14+265_-14+266del
ENST00000535425.5:c.-14+265_-14+266del ENSP00000444242.1:n.-14+265_-14+266del
ENST00000543927.5:c.-14+510_-14+511del ENSP00000444433.1:n.-14+510_-14+511del
NM_001169109.1:c.-14+510_-14+511del NP_001162580.1:n.-14+510_-14+511del
NM_001169110.1:c.-14+265_-14+266del NP_001162581.1:n.-14+265_-14+266del
NM_001169109.2:c.-14+510_-14+511del NP_001162580.1:n.-14+510_-14+511del