Canonical Allele Identifier: CA1022879702

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077768216
• gnomAD v3: 21-45990428-TGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC-T
• gnomAD v4: 21-45990428-TGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990433_45990516del , CM000683.2:g.45990433_45990516del	GRCh38
NC_000021.8:g.47410347_47410430del , CM000683.1:g.47410347_47410430del	GRCh37
NC_000021.7:g.46234775_46234858del	NCBI36
NG_008674.1:g.13685_13768del , LRG_475:g.13685_13768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+11_1002+94del MANE Select	ENSP00000355180.3:n.1002+11_1002+94del
ENST00000361866.7:c.1002+11_1002+94del	ENSP00000355180.3:n.1002+11_1002+94del
ENST00000612273.1:c.1002+11_1002+94del	ENSP00000483630.1:n.1002+11_1002+94del
NM_001848.2:c.1002+11_1002+94del , LRG_475t1:c.1002+11_1002+94del	NP_001839.2:n.1002+11_1002+94del
NM_001848.3:c.1002+11_1002+94del MANE Select	NP_001839.2:n.1002+11_1002+94del