Canonical Allele Identifier: CA2654972595

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990532-A-AGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG , CM000683.2:g.45990585_45990586insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	GRCh38
NC_000021.8:g.47410499_47410500insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG , CM000683.1:g.47410499_47410500insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	GRCh37
NC_000021.7:g.46234927_46234928insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	NCBI36
NG_008674.1:g.13837_13838insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG , LRG_475:g.13837_13838insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG MANE Select	ENSP00000355180.3:n.1002+163_1002+164insATGGGGAGGGACGGAGTGGAC...
ENST00000361866.7:c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	ENSP00000355180.3:n.1002+163_1002+164insATGGGGAGGGACGGAGTGGAC...
ENST00000612273.1:c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	ENSP00000483630.1:n.1002+163_1002+164insATGGGGAGGGACGGAGTGGAC...
NM_001848.2:c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG , LRG_475t1:c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG	NP_001839.2:n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTG...
NM_001848.3:c.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACCGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAG MANE Select	NP_001839.2:n.1002+163_1002+164insATGGGGAGGGACGGAGTGGACGGCGTG...