Canonical Allele Identifier: CA915445902

Gene: SCRN1

Linked Data

• dbSNP Id: rs1562797640
• gnomAD v2: 7-29962154-T-TTTAC
• gnomAD v3: 7-29922538-T-TTTAC
• gnomAD v4: 7-29922538-T-TTTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29922539_29922542dup , CM000669.2:g.29922539_29922542dup	GRCh38
NC_000007.13:g.29962155_29962158dup , CM000669.1:g.29962155_29962158dup	GRCh37
NC_000007.12:g.29928680_29928683dup	NCBI36
NG_047114.1:g.72748_72751dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.*1415_*1418dup MANE Select	ENSP00000242059.5:n.*1415_*1418dup
ENST00000242059.9:c.*1415_*1418dup	ENSP00000242059.5:n.*1415_*1418dup
ENST00000426154.5:c.*1415_*1418dup	ENSP00000409068.1:n.*1415_*1418dup
NM_001145513.1:c.*1415_*1418dup	NP_001138985.1:n.*1415_*1418dup
NM_001145514.1:c.*1415_*1418dup	NP_001138986.1:n.*1415_*1418dup
NM_001145515.1:c.*1415_*1418dup	NP_001138987.1:n.*1415_*1418dup
NM_014766.4:c.*1415_*1418dup	NP_055581.3:n.*1415_*1418dup
XM_005249918.3:c.*1415_*1418dup	XP_005249975.1:n.*1415_*1418dup
XM_011515653.1:c.*1415_*1418dup	XP_011513955.1:n.*1415_*1418dup
XM_024447007.1:c.*1415_*1418dup	XP_024302775.1:n.*1415_*1418dup
NM_014766.5:c.*1415_*1418dup MANE Select	NP_055581.3:n.*1415_*1418dup
NM_001145515.2:c.*1415_*1418dup	NP_001138987.1:n.*1415_*1418dup