Canonical Allele Identifier: CA2682211563

Gene: SCRN1

Linked Data

• gnomAD v4: 7-29922816-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29922818del , CM000669.2:g.29922818del	GRCh38
NC_000007.13:g.29962434del , CM000669.1:g.29962434del	GRCh37
NC_000007.12:g.29928959del	NCBI36
NG_047114.1:g.72473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.*1140del MANE Select	ENSP00000242059.5:n.*1140del
ENST00000242059.9:c.*1140del	ENSP00000242059.5:n.*1140del
ENST00000426154.5:c.*1140del	ENSP00000409068.1:n.*1140del
NM_001145513.1:c.*1140del	NP_001138985.1:n.*1140del
NM_001145514.1:c.*1140del	NP_001138986.1:n.*1140del
NM_001145515.1:c.*1140del	NP_001138987.1:n.*1140del
NM_014766.4:c.*1140del	NP_055581.3:n.*1140del
XM_005249918.3:c.*1140del	XP_005249975.1:n.*1140del
XM_011515653.1:c.*1140del	XP_011513955.1:n.*1140del
XM_024447007.1:c.*1140del	XP_024302775.1:n.*1140del
NM_014766.5:c.*1140del MANE Select	NP_055581.3:n.*1140del
NM_001145515.2:c.*1140del	NP_001138987.1:n.*1140del