Canonical Allele Identifier: CA156019706

Gene: SCRN1

Linked Data

• dbSNP Id: rs28364760
• gnomAD v2: 7-29962667-CTG-C
• gnomAD v3: 7-29923051-CTG-C
• gnomAD v4: 7-29923051-CTG-C
• COSMIC: COSN20104072 ; COSN20104073
• MyVariant Identifiers: chr7:g.29962668_29962669del (hg19) ; chr7:g.29923052_29923053del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29923054_29923055del , CM000669.2:g.29923054_29923055del	GRCh38
NC_000007.13:g.29962670_29962671del , CM000669.1:g.29962670_29962671del	GRCh37
NC_000007.12:g.29929195_29929196del	NCBI36
NG_047114.1:g.72237_72238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.*904_*905del MANE Select	ENSP00000242059.5:n.*904_*905del
ENST00000242059.9:c.*904_*905del	ENSP00000242059.5:n.*904_*905del
ENST00000426154.5:c.*904_*905del	ENSP00000409068.1:n.*904_*905del
NM_001145513.1:c.*904_*905del	NP_001138985.1:n.*904_*905del
NM_001145514.1:c.*904_*905del	NP_001138986.1:n.*904_*905del
NM_001145515.1:c.*904_*905del	NP_001138987.1:n.*904_*905del
NM_014766.4:c.*904_*905del	NP_055581.3:n.*904_*905del
XM_005249918.3:c.*904_*905del	XP_005249975.1:n.*904_*905del
XM_011515653.1:c.*904_*905del	XP_011513955.1:n.*904_*905del
XM_024447007.1:c.*904_*905del	XP_024302775.1:n.*904_*905del
NM_014766.5:c.*904_*905del MANE Select	NP_055581.3:n.*904_*905del
NM_001145515.2:c.*904_*905del	NP_001138987.1:n.*904_*905del