Canonical Allele Identifier: CA2657563384

Gene: SCO2

Linked Data

• gnomAD v4: 22-50525723-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525724_50525725del , CM000684.2:g.50525724_50525725del	GRCh38
NC_000022.10:g.50964153_50964154del , CM000684.1:g.50964153_50964154del	GRCh37
NC_000022.9:g.49311019_49311020del	NCBI36
NG_011860.1:g.9361_9362del , LRG_727:g.9361_9362del
NG_016235.1:g.5715_5716del
NG_021419.1:g.22509_22510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543927.6:c.-14+521_-14+522del	ENSP00000444433.1:n.-14+521_-14+522del
ENST00000638598.2:c.-14+276_-14+277del	ENSP00000491753.2:n.-14+276_-14+277del
ENST00000423348.1:c.-14+521_-14+522del	ENSP00000403570.1:n.-14+521_-14+522del
ENST00000439934.5:c.-14+276_-14+277del	ENSP00000415642.1:n.-14+276_-14+277del
ENST00000535425.5:c.-14+276_-14+277del	ENSP00000444242.1:n.-14+276_-14+277del
ENST00000543927.5:c.-14+521_-14+522del	ENSP00000444433.1:n.-14+521_-14+522del
NM_001169109.1:c.-14+521_-14+522del	NP_001162580.1:n.-14+521_-14+522del
NM_001169110.1:c.-14+276_-14+277del	NP_001162581.1:n.-14+276_-14+277del
NM_001169109.2:c.-14+521_-14+522del	NP_001162580.1:n.-14+521_-14+522del