Canonical Allele Identifier: CA10070000

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 1221655
• ClinVar RCV Id: RCV001598808
• dbSNP Id: rs774756547
• ExAC: 21:47410378 GAATGGGGC / G
• gnomAD v2: 21-47410378-GAATGGGGC-G
• gnomAD v3: 21-45990464-GAATGGGGC-G
• gnomAD v4: 21-45990464-GAATGGGGC-G
• MyVariant Identifiers: chr21:g.47410379_47410386del (hg19) ; chr21:g.47410379_47410388delinsGA (hg19) ; chr21:g.45990465_45990472del (hg38) ; chr21:g.45990465_45990474delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990472del , CM000683.2:g.45990465_45990472del	GRCh38
NC_000021.8:g.47410379_47410386del , CM000683.1:g.47410379_47410386del	GRCh37
NC_000021.7:g.46234807_46234814del	NCBI36
NG_008674.1:g.13717_13724del , LRG_475:g.13717_13724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+43_1002+50del MANE Select	ENSP00000355180.3:n.1002+43_1002+50del
ENST00000361866.7:c.1002+43_1002+50del	ENSP00000355180.3:n.1002+43_1002+50del
ENST00000612273.1:c.1002+43_1002+50del	ENSP00000483630.1:n.1002+43_1002+50del
NM_001848.2:c.1002+43_1002+50del , LRG_475t1:c.1002+43_1002+50del	NP_001839.2:n.1002+43_1002+50del
NM_001848.3:c.1002+43_1002+50del MANE Select	NP_001839.2:n.1002+43_1002+50del