Canonical Allele Identifier: CA658799104

Gene: SCAMP4 ADAT3

Linked Data

• ClinVar Variation Id: 523977
• ClinVar RCV Id: RCV000627469 ; RCV002245055
• dbSNP Id: rs1555837861
• MyVariant Identifiers: chr19:g.1912632del (hg19) ; chr19:g.1912633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1912633del , CM000681.2:g.1912633del	GRCh38
NC_000019.9:g.1912632del , CM000681.1:g.1912632del	GRCh37
NC_000019.8:g.1863632del	NCBI36
NG_051211.1:g.12420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409472.6:c.-41-2346del (SCAMP4)	ENSP00000386865.1:n.-41-2346del
ENST00000316097.13:c.-41-2346del (SCAMP4) MANE Select	ENSP00000316007.7:n.-41-2346del
ENST00000329478.4:c.586del (ADAT3) MANE Select	ENSP00000332448.2:p.Ala196ArgfsTer20
ENST00000316097.12:c.-41-2346del (SCAMP4)	ENSP00000316007.7:n.-41-2346del
ENST00000329478.3:c.586del (ADAT3)	ENSP00000332448.2:p.Ala196ArgfsTer20
ENST00000409472.5:c.-41-2346del (SCAMP4)	ENSP00000386865.1:n.-41-2346del
ENST00000411971.5:c.-41-2346del (SCAMP4)	ENSP00000388185.2:n.-41-2346del
ENST00000414057.6:c.-125-5061del (SCAMP4)	ENSP00000479672.1:n.-125-5061del
ENST00000452128.6:n.69-2346del (SCAMP4)
ENST00000460767.5:c.-41-2346del (SCAMP4)	ENSP00000481989.1:n.-41-2346del
ENST00000489554.1:n.42-2346del (SCAMP4)
ENST00000588907.2:c.-126+3998del (SCAMP4)	ENSP00000478264.1:n.-126+3998del
NM_079834.2:c.-41-2346del (SCAMP4)	NP_524558.1:n.-41-2346del
NM_138422.2:c.586del (ADAT3)	NP_612431.2:p.Ala196ArgfsTer20
NM_001329533.1:c.538del (ADAT3)	NP_001316462.1:p.Ala180ArgfsTer20
NM_001329539.1:c.-125-5061del (SCAMP4)	NP_001316468.1:n.-125-5061del
NM_001329540.1:c.-41-2346del (SCAMP4)	NP_001316469.1:n.-41-2346del
NM_079834.3:c.-41-2346del (SCAMP4)	NP_524558.1:n.-41-2346del
NM_138422.3:c.586del (ADAT3)	NP_612431.2:p.Ala196ArgfsTer20
NM_079834.4:c.-41-2346del (SCAMP4) MANE Select	NP_524558.1:n.-41-2346del
NM_138422.4:c.586del (ADAT3) MANE Select	NP_612431.2:p.Ala196ArgfsTer20
NM_001329533.2:c.538del (ADAT3)	NP_001316462.1:p.Ala180ArgfsTer20
NM_001329539.2:c.-125-5061del (SCAMP4)	NP_001316468.1:n.-125-5061del
NM_001329540.2:c.-41-2346del (SCAMP4)	NP_001316469.1:n.-41-2346del