Canonical Allele Identifier: CA890105102

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs1485506134
• gnomAD v3: 1-160313771-CAT-C
• gnomAD v4: 1-160313771-CAT-C
• MyVariant Identifiers: chr1:g.160283562_160283563del (hg19) ; chr1:g.160313772_160313773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313772_160313773del , CM000663.2:g.160313772_160313773del	GRCh38
NC_000001.10:g.160283562_160283563del , CM000663.1:g.160283562_160283563del	GRCh37
NC_000001.9:g.158550186_158550187del	NCBI36
NG_050927.1:g.34792_34793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+217_514+218del (COPA)
ENST00000696203.1:n.3326+217_3326+218del (COPA)
ENST00000696204.1:n.3533+217_3533+218del (COPA)
ENST00000696206.1:n.613+217_613+218del (COPA)
ENST00000696207.1:n.839+217_839+218del (COPA)
ENST00000696208.1:n.945+217_945+218del (COPA)
ENST00000696209.1:n.1238+217_1238+218del (COPA)
ENST00000696210.1:n.1238+217_1238+218del (COPA)
ENST00000696211.1:n.1238+217_1238+218del (COPA)
ENST00000696212.1:n.3526+217_3526+218del (COPA)
ENST00000696213.1:n.1969+217_1969+218del (COPA)
ENST00000696214.1:n.3552+217_3552+218del (COPA)
ENST00000696215.1:n.945+217_945+218del (COPA)
ENST00000241704.8:c.842+217_842+218del (COPA) MANE Select	ENSP00000241704.7:n.842+217_842+218del
ENST00000647683.1:c.842+217_842+218del (COPA)	ENSP00000497495.1:n.842+217_842+218del
ENST00000647693.1:n.1926+217_1926+218del (COPA)
ENST00000647799.1:c.*279+217_*279+218del (COPA)	ENSP00000497970.1:n.*279+217_*279+218del
ENST00000647899.1:c.361+217_361+218del (COPA)
ENST00000648501.1:c.316-606_316-605del (COPA)
ENST00000648805.1:c.842+217_842+218del (COPA)	ENSP00000497433.1:n.842+217_842+218del
ENST00000649231.1:c.842+217_842+218del (COPA)	ENSP00000498061.1:n.842+217_842+218del
ENST00000649676.1:c.389+217_389+218del (COPA)	ENSP00000497257.1:n.389+217_389+218del
ENST00000649787.1:c.842+217_842+218del (COPA)	ENSP00000497231.1:n.842+217_842+218del
ENST00000649963.1:c.*531+217_*531+218del (COPA)	ENSP00000498129.1:n.*531+217_*531+218del
ENST00000650154.1:c.*279+217_*279+218del (COPA)	ENSP00000497094.1:n.*279+217_*279+218del
ENST00000241704.7:c.842+217_842+218del (COPA)	ENSP00000241704.7:n.842+217_842+218del
ENST00000368069.7:c.842+217_842+218del (COPA)	ENSP00000357048.3:n.842+217_842+218del
NM_001098398.1:c.842+217_842+218del (COPA)	NP_001091868.1:n.842+217_842+218del
NM_004371.3:c.842+217_842+218del (COPA)	NP_004362.2:n.842+217_842+218del
XM_011509584.1:c.-176+27181_-176+27182del (NHLH1)	XP_011507886.1:n.-176+27181_-176+27182del
NM_001098398.2:c.842+217_842+218del (COPA)	NP_001091868.1:n.842+217_842+218del
NM_004371.4:c.842+217_842+218del (COPA) MANE Select	NP_004362.2:n.842+217_842+218del