Canonical Allele Identifier: CA1022879618

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990409-TGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG-T
• gnomAD v4: 21-45990409-TGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990411_45990485del , CM000683.2:g.45990411_45990485del	GRCh38
NC_000021.8:g.47410325_47410399del , CM000683.1:g.47410325_47410399del	GRCh37
NC_000021.7:g.46234753_46234827del	NCBI36
NG_008674.1:g.13663_13737del , LRG_475:g.13663_13737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.991_1002+63del
ENST00000361866.7:c.991_1002+63del
ENST00000612273.1:c.991_1002+63del
NM_001848.2:c.991_1002+63del , LRG_475t1:c.991_1002+63del
NM_001848.3:c.991_1002+63del