Canonical Allele Identifier: CA2591412947

Gene: COL6A1

Linked Data

• gnomAD v3: 21-45990567-C-CAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT
• gnomAD v4: 21-45990567-C-CAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990567_45990568insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , CM000683.2:g.45990567_45990568insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	GRCh38
NC_000021.8:g.47410481_47410482insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , CM000683.1:g.47410481_47410482insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	GRCh37
NC_000021.7:g.46234909_46234910insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	NCBI36
NG_008674.1:g.13819_13820insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , LRG_475:g.13819_13820insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT MANE Select	ENSP00000355180.3:n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGA...
ENST00000361866.7:c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	ENSP00000355180.3:n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGA...
ENST00000612273.1:c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	ENSP00000483630.1:n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGA...
NM_001848.2:c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT , LRG_475t1:c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT	NP_001839.2:n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACG...
NM_001848.3:c.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGAT MANE Select	NP_001839.2:n.1002+145_1002+146insAGTGTGAAGGTGACCAGGGGAAGGACG...