Canonical Allele Identifier: CA1202267791

Gene: COPA NHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313937_160313938delinsAT , CM000663.2:g.160313937_160313938delinsAT	GRCh38
NC_000001.10:g.160283727_160283728delinsAT , CM000663.1:g.160283727_160283728delinsAT	GRCh37
NC_000001.9:g.158550351_158550352delinsAT	NCBI36
NG_050927.1:g.34627_34628delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+52_514+53delinsAT (COPA)
ENST00000696203.1:n.3326+52_3326+53delinsAT (COPA)
ENST00000696204.1:n.3533+52_3533+53delinsAT (COPA)
ENST00000696206.1:n.613+52_613+53delinsAT (COPA)
ENST00000696207.1:n.839+52_839+53delinsAT (COPA)
ENST00000696208.1:n.945+52_945+53delinsAT (COPA)
ENST00000696209.1:n.1238+52_1238+53delinsAT (COPA)
ENST00000696210.1:n.1238+52_1238+53delinsAT (COPA)
ENST00000696211.1:n.1238+52_1238+53delinsAT (COPA)
ENST00000696212.1:n.3526+52_3526+53delinsAT (COPA)
ENST00000696213.1:n.1969+52_1969+53delinsAT (COPA)
ENST00000696214.1:n.3552+52_3552+53delinsAT (COPA)
ENST00000696215.1:n.945+52_945+53delinsAT (COPA)
ENST00000241704.8:c.842+52_842+53delinsAT (COPA) MANE Select	ENSP00000241704.7:n.842+52_842+53delinsAT
ENST00000647683.1:c.842+52_842+53delinsAT (COPA)	ENSP00000497495.1:n.842+52_842+53delinsAT
ENST00000647693.1:n.1926+52_1926+53delinsAT (COPA)
ENST00000647799.1:c.*279+52_*279+53delinsAT (COPA)	ENSP00000497970.1:n.*279+52_*279+53delinsAT
ENST00000647899.1:c.361+52_361+53delinsAT (COPA)
ENST00000648501.1:c.316-771_316-770delinsAT (COPA)
ENST00000648805.1:c.842+52_842+53delinsAT (COPA)	ENSP00000497433.1:n.842+52_842+53delinsAT
ENST00000649231.1:c.842+52_842+53delinsAT (COPA)	ENSP00000498061.1:n.842+52_842+53delinsAT
ENST00000649676.1:c.389+52_389+53delinsAT (COPA)	ENSP00000497257.1:n.389+52_389+53delinsAT
ENST00000649787.1:c.842+52_842+53delinsAT (COPA)	ENSP00000497231.1:n.842+52_842+53delinsAT
ENST00000649963.1:c.*531+52_*531+53delinsAT (COPA)	ENSP00000498129.1:n.*531+52_*531+53delinsAT
ENST00000650154.1:c.*279+52_*279+53delinsAT (COPA)	ENSP00000497094.1:n.*279+52_*279+53delinsAT
ENST00000241704.7:c.842+52_842+53delinsAT (COPA)	ENSP00000241704.7:n.842+52_842+53delinsAT
ENST00000368069.7:c.842+52_842+53delinsAT (COPA)	ENSP00000357048.3:n.842+52_842+53delinsAT
NM_001098398.1:c.842+52_842+53delinsAT (COPA)	NP_001091868.1:n.842+52_842+53delinsAT
NM_004371.3:c.842+52_842+53delinsAT (COPA)	NP_004362.2:n.842+52_842+53delinsAT
XM_011509584.1:c.-176+27346_-176+27347delinsAT (NHLH1)	XP_011507886.1:n.-176+27346_-176+27347delinsAT
NM_001098398.2:c.842+52_842+53delinsAT (COPA)	NP_001091868.1:n.842+52_842+53delinsAT
NM_004371.4:c.842+52_842+53delinsAT (COPA) MANE Select	NP_004362.2:n.842+52_842+53delinsAT