Canonical Allele Identifier: CA10069985

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569518227
• ExAC: 21:47410370 ACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC / A
• gnomAD v2: 21-47410370-ACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC-A
• gnomAD v3: 21-45990456-ACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC-A
• gnomAD v4: 21-45990456-ACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC-A
• MyVariant Identifiers: chr21:g.47410371_47410425del (hg19) ; chr21:g.45990457_45990511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990459_45990513del , CM000683.2:g.45990459_45990513del	GRCh38
NC_000021.8:g.47410373_47410427del , CM000683.1:g.47410373_47410427del	GRCh37
NC_000021.7:g.46234801_46234855del	NCBI36
NG_008674.1:g.13711_13765del , LRG_475:g.13711_13765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+37_1002+91del MANE Select	ENSP00000355180.3:n.1002+37_1002+91del
ENST00000361866.7:c.1002+37_1002+91del	ENSP00000355180.3:n.1002+37_1002+91del
ENST00000612273.1:c.1002+37_1002+91del	ENSP00000483630.1:n.1002+37_1002+91del
NM_001848.2:c.1002+37_1002+91del , LRG_475t1:c.1002+37_1002+91del	NP_001839.2:n.1002+37_1002+91del
NM_001848.3:c.1002+37_1002+91del MANE Select	NP_001839.2:n.1002+37_1002+91del