Canonical Allele Identifier: CA1202267761

Linked Data

dbSNP Id: rs1659051642

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160313845_160313848dup , CM000663.2:g.160313845_160313848dup GRCh38
NC_000001.10:g.160283635_160283638dup , CM000663.1:g.160283635_160283638dup GRCh37
NC_000001.9:g.158550259_158550262dup NCBI36
NG_050927.1:g.34717_34720dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696202.1:n.514+142_514+145dup (COPA)
ENST00000696203.1:n.3326+142_3326+145dup (COPA)
ENST00000696204.1:n.3533+142_3533+145dup (COPA)
ENST00000696206.1:n.613+142_613+145dup (COPA)
ENST00000696207.1:n.839+142_839+145dup (COPA)
ENST00000696208.1:n.945+142_945+145dup (COPA)
ENST00000696209.1:n.1238+142_1238+145dup (COPA)
ENST00000696210.1:n.1238+142_1238+145dup (COPA)
ENST00000696211.1:n.1238+142_1238+145dup (COPA)
ENST00000696212.1:n.3526+142_3526+145dup (COPA)
ENST00000696213.1:n.1969+142_1969+145dup (COPA)
ENST00000696214.1:n.3552+142_3552+145dup (COPA)
ENST00000696215.1:n.945+142_945+145dup (COPA)
ENST00000241704.8:c.842+142_842+145dup (COPA) MANE Select ENSP00000241704.7:n.842+142_842+145dup
ENST00000647683.1:c.842+142_842+145dup (COPA) ENSP00000497495.1:n.842+142_842+145dup
ENST00000647693.1:n.1926+142_1926+145dup (COPA)
ENST00000647799.1:c.*279+142_*279+145dup (COPA) ENSP00000497970.1:n.*279+142_*279+145dup
ENST00000647899.1:c.361+142_361+145dup (COPA)
ENST00000648501.1:c.316-681_316-678dup (COPA)
ENST00000648805.1:c.842+142_842+145dup (COPA) ENSP00000497433.1:n.842+142_842+145dup
ENST00000649231.1:c.842+142_842+145dup (COPA) ENSP00000498061.1:n.842+142_842+145dup
ENST00000649676.1:c.389+142_389+145dup (COPA) ENSP00000497257.1:n.389+142_389+145dup
ENST00000649787.1:c.842+142_842+145dup (COPA) ENSP00000497231.1:n.842+142_842+145dup
ENST00000649963.1:c.*531+142_*531+145dup (COPA) ENSP00000498129.1:n.*531+142_*531+145dup
ENST00000650154.1:c.*279+142_*279+145dup (COPA) ENSP00000497094.1:n.*279+142_*279+145dup
ENST00000241704.7:c.842+142_842+145dup (COPA) ENSP00000241704.7:n.842+142_842+145dup
ENST00000368069.7:c.842+142_842+145dup (COPA) ENSP00000357048.3:n.842+142_842+145dup
NM_001098398.1:c.842+142_842+145dup (COPA) NP_001091868.1:n.842+142_842+145dup
NM_004371.3:c.842+142_842+145dup (COPA) NP_004362.2:n.842+142_842+145dup
XM_011509584.1:c.-176+27254_-176+27257dup (NHLH1) XP_011507886.1:n.-176+27254_-176+27257dup
NM_001098398.2:c.842+142_842+145dup (COPA) NP_001091868.1:n.842+142_842+145dup
NM_004371.4:c.842+142_842+145dup (COPA) MANE Select NP_004362.2:n.842+142_842+145dup