Canonical Allele Identifier: CA7365524

Gene: COA8 KLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103574101_103574103dup , CM000676.2:g.103574101_103574103dup	GRCh38
NC_000014.8:g.104040438_104040440dup , CM000676.1:g.104040438_104040440dup	GRCh37
NC_000014.7:g.103110191_103110193dup	NCBI36
NG_041786.1:g.16145_16147dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001370595.2:c.322-6_322-4dup (COA8) MANE Select	NP_001357524.1:n.322-6_322-4dup
ENST00000409074.8:c.322-6_322-4dup (COA8) MANE Select	ENSP00000386485.3:n.322-6_322-4dup
NM_001302652.1:c.361-6_361-4dup (COA8)	NP_001289581.1:n.361-6_361-4dup
NM_001302652.2:c.322-6_322-4dup (COA8)	NP_001289581.2:n.322-6_322-4dup
NM_001302653.1:c.361-6_361-4dup (COA8)	NP_001289582.1:n.361-6_361-4dup
NM_001302653.2:c.322-6_322-4dup (COA8)	NP_001289582.2:n.322-6_322-4dup
NM_001302654.1:c.361-6_361-4dup (COA8)	NP_001289583.1:n.361-6_361-4dup
NM_001302654.2:c.322-6_322-4dup (COA8)	NP_001289583.2:n.322-6_322-4dup
NM_032374.4:c.361-6_361-4dup (COA8)	NP_115750.2:n.361-6_361-4dup
NR_126431.1:n.532-6_532-4dup (COA8)
NR_126431.2:n.529-6_529-4dup (COA8)
NR_126432.1:n.366+2281_366+2283dup (COA8)
NR_126432.2:n.363+2281_363+2283dup (COA8)
ENST00000409074.6:c.361-6_361-4dup (COA8)	ENSP00000386485.2:n.361-6_361-4dup
ENST00000440963.1:c.160+10977_160+10979dup (COA8)	ENSP00000388067.1:n.160+10977_160+10979dup
ENST00000440963.2:c.123+10977_123+10979dup (COA8)	ENSP00000388067.2:n.123+10977_123+10979dup
ENST00000458117.5:c.344+2281_344+2283dup (COA8)
ENST00000458117.6:c.321+2281_321+2283dup (COA8)	ENSP00000408525.2:n.321+2281_321+2283dup
ENST00000472726.2:c.361-6_361-4dup	ENSP00000439065.1:n.361-6_361-4dup
ENST00000472726.3:c.322-6_322-4dup	ENSP00000439065.2:n.322-6_322-4dup
ENST00000473127.5:c.-30+2281_-30+2283dup (COA8)	ENSP00000489380.1:n.-30+2281_-30+2283dup
ENST00000474271.1:n.66-6_66-4dup (COA8)
ENST00000476323.5:c.-30+2281_-30+2283dup (COA8)	ENSP00000489047.1:n.-30+2281_-30+2283dup
ENST00000477116.5:c.-93-6_-93-4dup (COA8)	ENSP00000489152.1:n.-93-6_-93-4dup
ENST00000489117.5:c.436-6_436-4dup (COA8)	ENSP00000451788.1:n.436-6_436-4dup
ENST00000492189.5:c.-30+10718_-30+10720dup (COA8)	ENSP00000489557.1:n.-30+10718_-30+10720dup
ENST00000495778.1:c.247-6_247-4dup (COA8)	ENSP00000451703.1:n.247-6_247-4dup
ENST00000497901.5:n.288-6_288-4dup (COA8)
ENST00000554625.5:n.342-6_342-4dup (COA8)
ENST00000554876.5:c.154-6_154-4dup (COA8)	ENSP00000489308.1:n.154-6_154-4dup
ENST00000555660.5:c.67+2281_67+2283dup (COA8)
ENST00000556253.6:c.322-6_322-4dup (COA8)	ENSP00000451874.2:n.322-6_322-4dup
ENST00000557172.5:c.-2+12117_-2+12119dup (KLC1)	ENSP00000450786.1:n.-2+12117_-2+12119dup
ENST00000674165.1:c.361-6_361-4dup (COA8)	ENSP00000501341.1:n.361-6_361-4dup