Canonical Allele Identifier: CA1022879748

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077768478
• gnomAD v3: 21-45990443-TGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG-T
• gnomAD v4: 21-45990443-TGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990457_45990576del , CM000683.2:g.45990457_45990576del	GRCh38
NC_000021.8:g.47410371_47410490del , CM000683.1:g.47410371_47410490del	GRCh37
NC_000021.7:g.46234799_46234918del	NCBI36
NG_008674.1:g.13709_13828del , LRG_475:g.13709_13828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+35_1002+154del MANE Select	ENSP00000355180.3:n.1002+35_1002+154del
ENST00000361866.7:c.1002+35_1002+154del	ENSP00000355180.3:n.1002+35_1002+154del
ENST00000612273.1:c.1002+35_1002+154del	ENSP00000483630.1:n.1002+35_1002+154del
NM_001848.2:c.1002+35_1002+154del , LRG_475t1:c.1002+35_1002+154del	NP_001839.2:n.1002+35_1002+154del
NM_001848.3:c.1002+35_1002+154del MANE Select	NP_001839.2:n.1002+35_1002+154del