Canonical Allele Identifier: CA2648672819

Gene: COPA NHLH1

Linked Data

• gnomAD v4: 1-160313943-AAAGAGAGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313950_160313959del , CM000663.2:g.160313950_160313959del	GRCh38
NC_000001.10:g.160283740_160283749del , CM000663.1:g.160283740_160283749del	GRCh37
NC_000001.9:g.158550364_158550373del	NCBI36
NG_050927.1:g.34612_34621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+37_514+46del (COPA)
ENST00000696203.1:n.3326+37_3326+46del (COPA)
ENST00000696204.1:n.3533+37_3533+46del (COPA)
ENST00000696206.1:n.613+37_613+46del (COPA)
ENST00000696207.1:n.839+37_839+46del (COPA)
ENST00000696208.1:n.945+37_945+46del (COPA)
ENST00000696209.1:n.1238+37_1238+46del (COPA)
ENST00000696210.1:n.1238+37_1238+46del (COPA)
ENST00000696211.1:n.1238+37_1238+46del (COPA)
ENST00000696212.1:n.3526+37_3526+46del (COPA)
ENST00000696213.1:n.1969+37_1969+46del (COPA)
ENST00000696214.1:n.3552+37_3552+46del (COPA)
ENST00000696215.1:n.945+37_945+46del (COPA)
ENST00000241704.8:c.842+37_842+46del (COPA) MANE Select	ENSP00000241704.7:n.842+37_842+46del
ENST00000647683.1:c.842+37_842+46del (COPA)	ENSP00000497495.1:n.842+37_842+46del
ENST00000647693.1:n.1926+37_1926+46del (COPA)
ENST00000647799.1:c.*279+37_*279+46del (COPA)	ENSP00000497970.1:n.*279+37_*279+46del
ENST00000647899.1:c.361+37_361+46del (COPA)
ENST00000648501.1:c.316-786_316-777del (COPA)
ENST00000648805.1:c.842+37_842+46del (COPA)	ENSP00000497433.1:n.842+37_842+46del
ENST00000649231.1:c.842+37_842+46del (COPA)	ENSP00000498061.1:n.842+37_842+46del
ENST00000649676.1:c.389+37_389+46del (COPA)	ENSP00000497257.1:n.389+37_389+46del
ENST00000649787.1:c.842+37_842+46del (COPA)	ENSP00000497231.1:n.842+37_842+46del
ENST00000649963.1:c.*531+37_*531+46del (COPA)	ENSP00000498129.1:n.*531+37_*531+46del
ENST00000650154.1:c.*279+37_*279+46del (COPA)	ENSP00000497094.1:n.*279+37_*279+46del
ENST00000241704.7:c.842+37_842+46del (COPA)	ENSP00000241704.7:n.842+37_842+46del
ENST00000368069.7:c.842+37_842+46del (COPA)	ENSP00000357048.3:n.842+37_842+46del
NM_001098398.1:c.842+37_842+46del (COPA)	NP_001091868.1:n.842+37_842+46del
NM_004371.3:c.842+37_842+46del (COPA)	NP_004362.2:n.842+37_842+46del
XM_011509584.1:c.-176+27359_-176+27368del (NHLH1)	XP_011507886.1:n.-176+27359_-176+27368del
NM_001098398.2:c.842+37_842+46del (COPA)	NP_001091868.1:n.842+37_842+46del
NM_004371.4:c.842+37_842+46del (COPA) MANE Select	NP_004362.2:n.842+37_842+46del