Canonical Allele Identifier: CA1202267782

Gene: COPA NHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313908_160313910delinsTGA , CM000663.2:g.160313908_160313910delinsTGA	GRCh38
NC_000001.10:g.160283698_160283700delinsTGA , CM000663.1:g.160283698_160283700delinsTGA	GRCh37
NC_000001.9:g.158550322_158550324delinsTGA	NCBI36
NG_050927.1:g.34655_34657delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+80_514+82delinsTCA (COPA)
ENST00000696203.1:n.3326+80_3326+82delinsTCA (COPA)
ENST00000696204.1:n.3533+80_3533+82delinsTCA (COPA)
ENST00000696206.1:n.613+80_613+82delinsTCA (COPA)
ENST00000696207.1:n.839+80_839+82delinsTCA (COPA)
ENST00000696208.1:n.945+80_945+82delinsTCA (COPA)
ENST00000696209.1:n.1238+80_1238+82delinsTCA (COPA)
ENST00000696210.1:n.1238+80_1238+82delinsTCA (COPA)
ENST00000696211.1:n.1238+80_1238+82delinsTCA (COPA)
ENST00000696212.1:n.3526+80_3526+82delinsTCA (COPA)
ENST00000696213.1:n.1969+80_1969+82delinsTCA (COPA)
ENST00000696214.1:n.3552+80_3552+82delinsTCA (COPA)
ENST00000696215.1:n.945+80_945+82delinsTCA (COPA)
ENST00000241704.8:c.842+80_842+82delinsTCA (COPA) MANE Select	ENSP00000241704.7:n.842+80_842+82delinsTCA
ENST00000647683.1:c.842+80_842+82delinsTCA (COPA)	ENSP00000497495.1:n.842+80_842+82delinsTCA
ENST00000647693.1:n.1926+80_1926+82delinsTCA (COPA)
ENST00000647799.1:c.*279+80_*279+82delinsTCA (COPA)	ENSP00000497970.1:n.*279+80_*279+82delinsTCA
ENST00000647899.1:c.361+80_361+82delinsTCA (COPA)
ENST00000648501.1:c.316-743_316-741delinsTCA (COPA)
ENST00000648805.1:c.842+80_842+82delinsTCA (COPA)	ENSP00000497433.1:n.842+80_842+82delinsTCA
ENST00000649231.1:c.842+80_842+82delinsTCA (COPA)	ENSP00000498061.1:n.842+80_842+82delinsTCA
ENST00000649676.1:c.389+80_389+82delinsTCA (COPA)	ENSP00000497257.1:n.389+80_389+82delinsTCA
ENST00000649787.1:c.842+80_842+82delinsTCA (COPA)	ENSP00000497231.1:n.842+80_842+82delinsTCA
ENST00000649963.1:c.*531+80_*531+82delinsTCA (COPA)	ENSP00000498129.1:n.*531+80_*531+82delinsTCA
ENST00000650154.1:c.*279+80_*279+82delinsTCA (COPA)	ENSP00000497094.1:n.*279+80_*279+82delinsTCA
ENST00000241704.7:c.842+80_842+82delinsTCA (COPA)	ENSP00000241704.7:n.842+80_842+82delinsTCA
ENST00000368069.7:c.842+80_842+82delinsTCA (COPA)	ENSP00000357048.3:n.842+80_842+82delinsTCA
NM_001098398.1:c.842+80_842+82delinsTCA (COPA)	NP_001091868.1:n.842+80_842+82delinsTCA
NM_004371.3:c.842+80_842+82delinsTCA (COPA)	NP_004362.2:n.842+80_842+82delinsTCA
XM_011509584.1:c.-176+27317_-176+27319delinsTGA (NHLH1)	XP_011507886.1:n.-176+27317_-176+27319delinsTGA
NM_001098398.2:c.842+80_842+82delinsTCA (COPA)	NP_001091868.1:n.842+80_842+82delinsTCA
NM_004371.4:c.842+80_842+82delinsTCA (COPA) MANE Select	NP_004362.2:n.842+80_842+82delinsTCA