Canonical Allele Identifier: CA2648672784

Gene: COPA NHLH1

Linked Data

• gnomAD v4: 1-160313877-ATGATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313885_160313889del , CM000663.2:g.160313885_160313889del	GRCh38
NC_000001.10:g.160283675_160283679del , CM000663.1:g.160283675_160283679del	GRCh37
NC_000001.9:g.158550299_158550303del	NCBI36
NG_050927.1:g.34683_34687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+108_514+112del (COPA)
ENST00000696203.1:n.3326+108_3326+112del (COPA)
ENST00000696204.1:n.3533+108_3533+112del (COPA)
ENST00000696206.1:n.613+108_613+112del (COPA)
ENST00000696207.1:n.839+108_839+112del (COPA)
ENST00000696208.1:n.945+108_945+112del (COPA)
ENST00000696209.1:n.1238+108_1238+112del (COPA)
ENST00000696210.1:n.1238+108_1238+112del (COPA)
ENST00000696211.1:n.1238+108_1238+112del (COPA)
ENST00000696212.1:n.3526+108_3526+112del (COPA)
ENST00000696213.1:n.1969+108_1969+112del (COPA)
ENST00000696214.1:n.3552+108_3552+112del (COPA)
ENST00000696215.1:n.945+108_945+112del (COPA)
ENST00000241704.8:c.842+108_842+112del (COPA) MANE Select	ENSP00000241704.7:n.842+108_842+112del
ENST00000647683.1:c.842+108_842+112del (COPA)	ENSP00000497495.1:n.842+108_842+112del
ENST00000647693.1:n.1926+108_1926+112del (COPA)
ENST00000647799.1:c.*279+108_*279+112del (COPA)	ENSP00000497970.1:n.*279+108_*279+112del
ENST00000647899.1:c.361+108_361+112del (COPA)
ENST00000648501.1:c.316-715_316-711del (COPA)
ENST00000648805.1:c.842+108_842+112del (COPA)	ENSP00000497433.1:n.842+108_842+112del
ENST00000649231.1:c.842+108_842+112del (COPA)	ENSP00000498061.1:n.842+108_842+112del
ENST00000649676.1:c.389+108_389+112del (COPA)	ENSP00000497257.1:n.389+108_389+112del
ENST00000649787.1:c.842+108_842+112del (COPA)	ENSP00000497231.1:n.842+108_842+112del
ENST00000649963.1:c.*531+108_*531+112del (COPA)	ENSP00000498129.1:n.*531+108_*531+112del
ENST00000650154.1:c.*279+108_*279+112del (COPA)	ENSP00000497094.1:n.*279+108_*279+112del
ENST00000241704.7:c.842+108_842+112del (COPA)	ENSP00000241704.7:n.842+108_842+112del
ENST00000368069.7:c.842+108_842+112del (COPA)	ENSP00000357048.3:n.842+108_842+112del
NM_001098398.1:c.842+108_842+112del (COPA)	NP_001091868.1:n.842+108_842+112del
NM_004371.3:c.842+108_842+112del (COPA)	NP_004362.2:n.842+108_842+112del
XM_011509584.1:c.-176+27294_-176+27298del (NHLH1)	XP_011507886.1:n.-176+27294_-176+27298del
NM_001098398.2:c.842+108_842+112del (COPA)	NP_001091868.1:n.842+108_842+112del
NM_004371.4:c.842+108_842+112del (COPA) MANE Select	NP_004362.2:n.842+108_842+112del