Canonical Allele Identifier: CA638178917

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569518231
• gnomAD v2: 21-47410375-G-GGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA
• gnomAD v4: 21-45990461-G-GGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA
• MyVariant Identifiers: chr21:g.47410376_47410381delinsGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGAAT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990461_45990462insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA , CM000683.2:g.45990461_45990462insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA	GRCh38
NC_000021.8:g.47410375_47410376insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA , CM000683.1:g.47410375_47410376insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA	GRCh37
NC_000021.7:g.46234803_46234804insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA	NCBI36
NG_008674.1:g.13713_13714insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA , LRG_475:g.13713_13714insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA MANE Select	ENSP00000355180.3:n.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACA...
ENST00000361866.7:c.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA	ENSP00000355180.3:n.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACA...
ENST00000612273.1:c.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA	ENSP00000483630.1:n.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACA...
NM_001848.2:c.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA , LRG_475t1:c.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA	NP_001839.2:n.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGA...
NM_001848.3:c.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGA MANE Select	NP_001839.2:n.1002+39_1002+40insGATGGGGAGGGATGGGGTGGACAGTGTGA...