Canonical Allele Identifier: CA10069993

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077768861
• ExAC: 21:47410373 AGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG / A
• gnomAD v2: 21-47410373-AGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG-A
• gnomAD v3: 21-45990459-AGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG-A
• gnomAD v4: 21-45990459-AGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG-A
• MyVariant Identifiers: chr21:g.47410374_47410473del (hg19) ; chr21:g.45990460_45990559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990564del , CM000683.2:g.45990465_45990564del	GRCh38
NC_000021.8:g.47410379_47410478del , CM000683.1:g.47410379_47410478del	GRCh37
NC_000021.7:g.46234807_46234906del	NCBI36
NG_008674.1:g.13717_13816del , LRG_475:g.13717_13816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+43_1002+142del MANE Select	ENSP00000355180.3:n.1002+43_1002+142del
ENST00000361866.7:c.1002+43_1002+142del	ENSP00000355180.3:n.1002+43_1002+142del
ENST00000612273.1:c.1002+43_1002+142del	ENSP00000483630.1:n.1002+43_1002+142del
NM_001848.2:c.1002+43_1002+142del , LRG_475t1:c.1002+43_1002+142del	NP_001839.2:n.1002+43_1002+142del
NM_001848.3:c.1002+43_1002+142del MANE Select	NP_001839.2:n.1002+43_1002+142del