Canonical Allele Identifier: CA1008334501

Gene: COPA NHLH1

Linked Data

• dbSNP Id: rs1659053915
• gnomAD v3: 1-160313908-TGA-T
• gnomAD v4: 1-160313908-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313913_160313914del , CM000663.2:g.160313913_160313914del	GRCh38
NC_000001.10:g.160283703_160283704del , CM000663.1:g.160283703_160283704del	GRCh37
NC_000001.9:g.158550327_158550328del	NCBI36
NG_050927.1:g.34655_34656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+80_514+81del (COPA)
ENST00000696203.1:n.3326+80_3326+81del (COPA)
ENST00000696204.1:n.3533+80_3533+81del (COPA)
ENST00000696206.1:n.613+80_613+81del (COPA)
ENST00000696207.1:n.839+80_839+81del (COPA)
ENST00000696208.1:n.945+80_945+81del (COPA)
ENST00000696209.1:n.1238+80_1238+81del (COPA)
ENST00000696210.1:n.1238+80_1238+81del (COPA)
ENST00000696211.1:n.1238+80_1238+81del (COPA)
ENST00000696212.1:n.3526+80_3526+81del (COPA)
ENST00000696213.1:n.1969+80_1969+81del (COPA)
ENST00000696214.1:n.3552+80_3552+81del (COPA)
ENST00000696215.1:n.945+80_945+81del (COPA)
ENST00000241704.8:c.842+80_842+81del (COPA) MANE Select	ENSP00000241704.7:n.842+80_842+81del
ENST00000647683.1:c.842+80_842+81del (COPA)	ENSP00000497495.1:n.842+80_842+81del
ENST00000647693.1:n.1926+80_1926+81del (COPA)
ENST00000647799.1:c.*279+80_*279+81del (COPA)	ENSP00000497970.1:n.*279+80_*279+81del
ENST00000647899.1:c.361+80_361+81del (COPA)
ENST00000648501.1:c.316-743_316-742del (COPA)
ENST00000648805.1:c.842+80_842+81del (COPA)	ENSP00000497433.1:n.842+80_842+81del
ENST00000649231.1:c.842+80_842+81del (COPA)	ENSP00000498061.1:n.842+80_842+81del
ENST00000649676.1:c.389+80_389+81del (COPA)	ENSP00000497257.1:n.389+80_389+81del
ENST00000649787.1:c.842+80_842+81del (COPA)	ENSP00000497231.1:n.842+80_842+81del
ENST00000649963.1:c.*531+80_*531+81del (COPA)	ENSP00000498129.1:n.*531+80_*531+81del
ENST00000650154.1:c.*279+80_*279+81del (COPA)	ENSP00000497094.1:n.*279+80_*279+81del
ENST00000241704.7:c.842+80_842+81del (COPA)	ENSP00000241704.7:n.842+80_842+81del
ENST00000368069.7:c.842+80_842+81del (COPA)	ENSP00000357048.3:n.842+80_842+81del
NM_001098398.1:c.842+80_842+81del (COPA)	NP_001091868.1:n.842+80_842+81del
NM_004371.3:c.842+80_842+81del (COPA)	NP_004362.2:n.842+80_842+81del
XM_011509584.1:c.-176+27322_-176+27323del (NHLH1)	XP_011507886.1:n.-176+27322_-176+27323del
NM_001098398.2:c.842+80_842+81del (COPA)	NP_001091868.1:n.842+80_842+81del
NM_004371.4:c.842+80_842+81del (COPA) MANE Select	NP_004362.2:n.842+80_842+81del