Canonical Allele Identifier: CA529917941
Community Standard Title: NM_001206641.3(COA6):c.213-102_213-101del
Gene: COA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.234374128_234374129del , CM000663.2:g.234374128_234374129del GRCh38
NC_000001.10:g.234509874_234509875del , CM000663.1:g.234509874_234509875del GRCh37
NC_000001.9:g.232576497_232576498del NCBI36
NG_034250.1:g.5692_5693del

Transcript Alleles

HGVS Amino-acid Change
NM_001206641.3:c.213-102_213-101del MANE Select NP_001193570.2:n.213-102_213-101del
ENST00000366615.10:c.213-102_213-101del MANE Select ENSP00000355574.5:n.213-102_213-101del
NM_001012985.2:c.123-102_123-101del NP_001013003.1:n.123-102_123-101del
NM_001206641.2:c.213-102_213-101del NP_001193570.2:n.213-102_213-101del
NM_001301733.1:c.-118_-117del NP_001288662.1:n.-118_-117del
ENST00000366612.1:c.-118_-117del ENSP00000355571.1:n.-118_-117del
ENST00000366613.1:c.123-102_123-101del ENSP00000355572.1:n.123-102_123-101del
ENST00000366615.8:c.213-102_213-101del ENSP00000355574.4:n.213-102_213-101del
ENST00000619305.1:c.-16-102_-16-101del ENSP00000479686.1:n.-16-102_-16-101del