Canonical Allele Identifier: CA1022879584

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077767852
• gnomAD v3: 21-45990401-CGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG-C
• gnomAD v4: 21-45990401-CGACGGGGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990407_45990489del , CM000683.2:g.45990407_45990489del	GRCh38
NC_000021.8:g.47410321_47410403del , CM000683.1:g.47410321_47410403del	GRCh37
NC_000021.7:g.46234749_46234831del	NCBI36
NG_008674.1:g.13659_13741del , LRG_475:g.13659_13741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.987_1002+67del
ENST00000361866.7:c.987_1002+67del
ENST00000612273.1:c.987_1002+67del
NM_001848.2:c.987_1002+67del , LRG_475t1:c.987_1002+67del
NM_001848.3:c.987_1002+67del