Canonical Allele Identifier: CA2160367108

Gene: COA8 KLC1

Linked Data

• ClinVar Variation Id: 1011681
• ClinVar RCV Id: RCV001309517
• dbSNP Id: rs2076100192

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103563112_103563113delinsAA , CM000676.2:g.103563112_103563113delinsAA	GRCh38
NC_000014.8:g.104029449_104029450delinsAA , CM000676.1:g.104029449_104029450delinsAA	GRCh37
NC_000014.7:g.103099202_103099203delinsAA	NCBI36
NG_041786.1:g.5156_5157delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409074.8:c.111_112delinsAA (COA8) MANE Select	ENSP00000386485.3:p.Ala38Thr
ENST00000440963.2:c.111_112delinsAA (COA8)	ENSP00000388067.2:p.Ala38Thr
ENST00000458117.6:c.111_112delinsAA (COA8)	ENSP00000408525.2:p.Ala38Thr
ENST00000472726.3:c.111_112delinsAA	ENSP00000439065.2:p.Ala38Thr
ENST00000674165.1:c.150_151delinsAA (COA8)	ENSP00000501341.1:p.Ala51Thr
ENST00000409074.6:c.150_151delinsAA (COA8)	ENSP00000386485.2:p.Ala51Thr
ENST00000440963.1:c.148_149delinsAA (COA8)	ENSP00000388067.1:p.Gly50Asn
ENST00000458117.5:c.134_135delinsAA (COA8)
ENST00000472726.2:c.150_151delinsAA	ENSP00000439065.1:p.Ala51Thr
ENST00000489117.5:c.60_61delinsAA (COA8)	ENSP00000451788.1:p.Ala21Thr
ENST00000495778.1:c.36_37delinsAA (COA8)	ENSP00000451703.1:p.Ala13Thr
ENST00000554625.5:n.131_132delinsAA (COA8)
ENST00000556253.6:c.111_112delinsAA (COA8)	ENSP00000451874.2:p.Ala38Thr
ENST00000557172.5:c.-2+1128_-2+1129delinsAA (KLC1)	ENSP00000450786.1:n.-2+1128_-2+1129delinsAA
NM_001302652.1:c.150_151delinsAA (COA8)	NP_001289581.1:p.Ala51Thr
NM_001302653.1:c.150_151delinsAA (COA8)	NP_001289582.1:p.Ala51Thr
NM_001302654.1:c.150_151delinsAA (COA8)	NP_001289583.1:p.Ala51Thr
NM_032374.4:c.150_151delinsAA (COA8)	NP_115750.2:p.Ala51Thr
NR_126431.1:n.156_157delinsAA (COA8)
NR_126432.1:n.156_157delinsAA (COA8)
NM_001302652.2:c.111_112delinsAA (COA8)	NP_001289581.2:p.Ala38Thr
NM_001302653.2:c.111_112delinsAA (COA8)	NP_001289582.2:p.Ala38Thr
NM_001302654.2:c.111_112delinsAA (COA8)	NP_001289583.2:p.Ala38Thr
NM_001370595.2:c.111_112delinsAA (COA8) MANE Select	NP_001357524.1:p.Ala38Thr
NR_126431.2:n.153_154delinsAA (COA8)
NR_126432.2:n.153_154delinsAA (COA8)