Canonical Allele Identifier: CA170855

Gene: COX6A1

Linked Data

• ClinVar Variation Id: 156370
• ClinVar RCV Id: RCV000144453 ; RCV001857493
• dbSNP Id: rs587777783
• ExAC: 12:120878246 TCACTC / T
• gnomAD v2: 12-120878246-TCACTC-T
• gnomAD v3: 12-120440443-TCACTC-T
• gnomAD v4: 12-120440443-TCACTC-T
• MyVariant Identifiers: chr12:g.120878247_120878251del (hg19) ; chr12:g.120440444_120440448del (hg38)
• PubMed: PMID:25152455 ; PMID:26302975

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120440447_120440451del , CM000674.2:g.120440447_120440451del	GRCh38
NC_000012.11:g.120878250_120878254del , CM000674.1:g.120878250_120878254del	GRCh37
NC_000012.10:g.119362633_119362637del	NCBI36
NG_034299.1:g.7358_7362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229379.3:c.247-7_247-3del MANE Select	ENSP00000229379.2:n.247-7_247-3del
ENST00000229379.2:c.247-7_247-3del	ENSP00000229379.2:n.247-7_247-3del
ENST00000549525.1:n.477_481del
ENST00000551806.1:c.175+1926_175+1930del
NM_004373.3:c.247-7_247-3del	NP_004364.2:n.247-7_247-3del
NM_004373.4:c.247-7_247-3del MANE Select	NP_004364.2:n.247-7_247-3del