Canonical Allele Identifier: CA2648672829

Gene: COPA NHLH1

Linked Data

• gnomAD v4: 1-160313958-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313960_160313961del , CM000663.2:g.160313960_160313961del	GRCh38
NC_000001.10:g.160283750_160283751del , CM000663.1:g.160283750_160283751del	GRCh37
NC_000001.9:g.158550374_158550375del	NCBI36
NG_050927.1:g.34605_34606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+30_514+31del (COPA)
ENST00000696203.1:n.3326+30_3326+31del (COPA)
ENST00000696204.1:n.3533+30_3533+31del (COPA)
ENST00000696206.1:n.613+30_613+31del (COPA)
ENST00000696207.1:n.839+30_839+31del (COPA)
ENST00000696208.1:n.945+30_945+31del (COPA)
ENST00000696209.1:n.1238+30_1238+31del (COPA)
ENST00000696210.1:n.1238+30_1238+31del (COPA)
ENST00000696211.1:n.1238+30_1238+31del (COPA)
ENST00000696212.1:n.3526+30_3526+31del (COPA)
ENST00000696213.1:n.1969+30_1969+31del (COPA)
ENST00000696214.1:n.3552+30_3552+31del (COPA)
ENST00000696215.1:n.945+30_945+31del (COPA)
ENST00000241704.8:c.842+30_842+31del (COPA) MANE Select	ENSP00000241704.7:n.842+30_842+31del
ENST00000647683.1:c.842+30_842+31del (COPA)	ENSP00000497495.1:n.842+30_842+31del
ENST00000647693.1:n.1926+30_1926+31del (COPA)
ENST00000647799.1:c.*279+30_*279+31del (COPA)	ENSP00000497970.1:n.*279+30_*279+31del
ENST00000647899.1:c.361+30_361+31del (COPA)
ENST00000648501.1:c.316-793_316-792del (COPA)
ENST00000648805.1:c.842+30_842+31del (COPA)	ENSP00000497433.1:n.842+30_842+31del
ENST00000649231.1:c.842+30_842+31del (COPA)	ENSP00000498061.1:n.842+30_842+31del
ENST00000649676.1:c.389+30_389+31del (COPA)	ENSP00000497257.1:n.389+30_389+31del
ENST00000649787.1:c.842+30_842+31del (COPA)	ENSP00000497231.1:n.842+30_842+31del
ENST00000649963.1:c.*531+30_*531+31del (COPA)	ENSP00000498129.1:n.*531+30_*531+31del
ENST00000650154.1:c.*279+30_*279+31del (COPA)	ENSP00000497094.1:n.*279+30_*279+31del
ENST00000241704.7:c.842+30_842+31del (COPA)	ENSP00000241704.7:n.842+30_842+31del
ENST00000368069.7:c.842+30_842+31del (COPA)	ENSP00000357048.3:n.842+30_842+31del
NM_001098398.1:c.842+30_842+31del (COPA)	NP_001091868.1:n.842+30_842+31del
NM_004371.3:c.842+30_842+31del (COPA)	NP_004362.2:n.842+30_842+31del
XM_011509584.1:c.-176+27369_-176+27370del (NHLH1)	XP_011507886.1:n.-176+27369_-176+27370del
NM_001098398.2:c.842+30_842+31del (COPA)	NP_001091868.1:n.842+30_842+31del
NM_004371.4:c.842+30_842+31del (COPA) MANE Select	NP_004362.2:n.842+30_842+31del