Canonical Allele Identifier: CA10603183
Gene: CHAMP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280855
ClinVar RCV Id: RCV000308859 RCV001265374
dbSNP Id: rs886041988
MyVariant Identifiers: chr13:g.115091167dupA (hg19) chr13:g.114325692dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.114325692dup , CM000675.2:g.114325692dup GRCh38
NC_000013.10:g.115091167dup , CM000675.1:g.115091167dup GRCh37
NC_000013.9:g.114109269dup NCBI36
NG_051829.1:g.16358dup

Transcript Alleles

HGVS Amino-acid change
ENST00000643483.2:c.1850dup ENSP00000496699.1:p.Lys618GlufsTer13
ENST00000644294.2:c.1850dup ENSP00000495985.2:p.Lys618GlufsTer13
ENST00000645174.2:c.1850dup ENSP00000494031.2:p.Lys618GlufsTer13
ENST00000700527.1:c.1850dup ENSP00000515032.1:p.Lys618GlufsTer13
ENST00000700528.1:c.1850dup ENSP00000515033.1:p.Lys618GlufsTer13
ENST00000361283.4:c.1850dup MANE Select ENSP00000354730.1:p.Lys618GlufsTer13
ENST00000643483.1:c.1850dup ENSP00000496699.1:p.Lys618GlufsTer13
ENST00000646155.1:n.123+11049dup
ENST00000646956.1:n.285+4460dup
ENST00000361283.2:c.1850dup ENSP00000354730.1:p.Lys618GlufsTer13
NM_001164144.1:c.1850dup NP_001157616.1:p.Lys618GlufsTer13
NM_001164145.1:c.1850dup NP_001157617.1:p.Lys618GlufsTer13
NM_032436.2:c.1850dup NP_115812.1:p.Lys618GlufsTer13
NM_001164144.2:c.1850dup NP_001157616.1:p.Lys618GlufsTer13
NM_001164145.2:c.1850dup NP_001157617.1:p.Lys618GlufsTer13
NM_032436.3:c.1850dup NP_115812.1:p.Lys618GlufsTer13
NM_032436.4:c.1850dup MANE Select NP_115812.1:p.Lys618GlufsTer13
NM_001164144.3:c.1850dup NP_001157616.1:p.Lys618GlufsTer13
NM_001164145.3:c.1850dup NP_001157617.1:p.Lys618GlufsTer13
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