Canonical Allele Identifier: CA7365658

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103590270del , CM000676.2:g.103590270del GRCh38
NC_000014.8:g.104056607del , CM000676.1:g.104056607del GRCh37
NC_000014.7:g.103126360del NCBI36
NG_041786.1:g.32314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409074.8:c.566del (COA8) MANE Select ENSP00000386485.3:p.Lys189ArgfsTer10
ENST00000440963.2:c.*163del (COA8) ENSP00000388067.2:n.*163del
ENST00000458117.6:c.*163del (COA8) ENSP00000408525.2:n.*163del
ENST00000472726.3:c.476+2906del ENSP00000439065.2:n.476+2906del
ENST00000674165.1:c.605del (COA8) ENSP00000501341.1:p.Lys202ArgfsTer10
ENST00000409074.6:c.605del (COA8) ENSP00000386485.2:p.Lys202ArgfsTer10
ENST00000440963.1:c.341del (COA8) ENSP00000388067.1:p.Lys114ArgfsTer10
ENST00000458117.5:c.525del (COA8)
ENST00000472726.2:c.515+2906del ENSP00000439065.1:n.515+2906del
ENST00000473127.5:c.152del (COA8) ENSP00000489380.1:p.Lys51ArgfsTer10
ENST00000474271.1:n.220+2906del (COA8)
ENST00000476323.5:c.202del (COA8) ENSP00000489047.1:p.Arg68GlufsTer?
ENST00000477116.5:c.152del (COA8) ENSP00000489152.1:p.Lys51ArgfsTer10
ENST00000489117.5:c.680del (COA8) ENSP00000451788.1:n.680del
ENST00000492189.5:c.152del (COA8) ENSP00000489557.1:p.Lys51ArgfsTer10
ENST00000556253.6:c.*120del (COA8) ENSP00000451874.2:n.*120del
ENST00000557079.1:n.372del (COA8)
ENST00000557172.5:c.-2+28286del (KLC1) ENSP00000450786.1:n.-2+28286del
NM_001302652.1:c.*12del (COA8) NP_001289581.1:n.*12del
NM_001302653.1:c.*120del (COA8) NP_001289582.1:n.*120del
NM_032374.4:c.605del (COA8) NP_115750.2:p.Lys202ArgfsTer10
NR_126431.1:n.776del (COA8)
NR_126432.1:n.547del (COA8)
NM_001302652.2:c.*12del (COA8) NP_001289581.2:n.*12del
NM_001302653.2:c.*120del (COA8) NP_001289582.2:n.*120del
NM_001370595.2:c.566del (COA8) MANE Select NP_001357524.1:p.Lys189ArgfsTer10
NR_126431.2:n.773del (COA8)
NR_126432.2:n.544del (COA8)