Canonical Allele Identifier: CA1202267794

Gene: COPA NHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160313944_160313948delinsAAGAG , CM000663.2:g.160313944_160313948delinsAAGAG	GRCh38
NC_000001.10:g.160283734_160283738delinsAAGAG , CM000663.1:g.160283734_160283738delinsAAGAG	GRCh37
NC_000001.9:g.158550358_158550362delinsAAGAG	NCBI36
NG_050927.1:g.34617_34621delinsCTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696202.1:n.514+42_514+46delinsCTCTT (COPA)
ENST00000696203.1:n.3326+42_3326+46delinsCTCTT (COPA)
ENST00000696204.1:n.3533+42_3533+46delinsCTCTT (COPA)
ENST00000696206.1:n.613+42_613+46delinsCTCTT (COPA)
ENST00000696207.1:n.839+42_839+46delinsCTCTT (COPA)
ENST00000696208.1:n.945+42_945+46delinsCTCTT (COPA)
ENST00000696209.1:n.1238+42_1238+46delinsCTCTT (COPA)
ENST00000696210.1:n.1238+42_1238+46delinsCTCTT (COPA)
ENST00000696211.1:n.1238+42_1238+46delinsCTCTT (COPA)
ENST00000696212.1:n.3526+42_3526+46delinsCTCTT (COPA)
ENST00000696213.1:n.1969+42_1969+46delinsCTCTT (COPA)
ENST00000696214.1:n.3552+42_3552+46delinsCTCTT (COPA)
ENST00000696215.1:n.945+42_945+46delinsCTCTT (COPA)
ENST00000241704.8:c.842+42_842+46delinsCTCTT (COPA) MANE Select	ENSP00000241704.7:n.842+42_842+46delinsCTCTT
ENST00000647683.1:c.842+42_842+46delinsCTCTT (COPA)	ENSP00000497495.1:n.842+42_842+46delinsCTCTT
ENST00000647693.1:n.1926+42_1926+46delinsCTCTT (COPA)
ENST00000647799.1:c.*279+42_*279+46delinsCTCTT (COPA)	ENSP00000497970.1:n.*279+42_*279+46delinsCTCTT
ENST00000647899.1:c.361+42_361+46delinsCTCTT (COPA)
ENST00000648501.1:c.316-781_316-777delinsCTCTT (COPA)
ENST00000648805.1:c.842+42_842+46delinsCTCTT (COPA)	ENSP00000497433.1:n.842+42_842+46delinsCTCTT
ENST00000649231.1:c.842+42_842+46delinsCTCTT (COPA)	ENSP00000498061.1:n.842+42_842+46delinsCTCTT
ENST00000649676.1:c.389+42_389+46delinsCTCTT (COPA)	ENSP00000497257.1:n.389+42_389+46delinsCTCTT
ENST00000649787.1:c.842+42_842+46delinsCTCTT (COPA)	ENSP00000497231.1:n.842+42_842+46delinsCTCTT
ENST00000649963.1:c.*531+42_*531+46delinsCTCTT (COPA)	ENSP00000498129.1:n.*531+42_*531+46delinsCTCTT
ENST00000650154.1:c.*279+42_*279+46delinsCTCTT (COPA)	ENSP00000497094.1:n.*279+42_*279+46delinsCTCTT
ENST00000241704.7:c.842+42_842+46delinsCTCTT (COPA)	ENSP00000241704.7:n.842+42_842+46delinsCTCTT
ENST00000368069.7:c.842+42_842+46delinsCTCTT (COPA)	ENSP00000357048.3:n.842+42_842+46delinsCTCTT
NM_001098398.1:c.842+42_842+46delinsCTCTT (COPA)	NP_001091868.1:n.842+42_842+46delinsCTCTT
NM_004371.3:c.842+42_842+46delinsCTCTT (COPA)	NP_004362.2:n.842+42_842+46delinsCTCTT
XM_011509584.1:c.-176+27353_-176+27357delinsAAGAG (NHLH1)	XP_011507886.1:n.-176+27353_-176+27357delinsAAGAG
NM_001098398.2:c.842+42_842+46delinsCTCTT (COPA)	NP_001091868.1:n.842+42_842+46delinsCTCTT
NM_004371.4:c.842+42_842+46delinsCTCTT (COPA) MANE Select	NP_004362.2:n.842+42_842+46delinsCTCTT