Canonical Allele Identifier: CA2654972398

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990472-C-CGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGATGGGGAGGGACGGGGAGGGATGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990556_45990557insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA , CM000683.2:g.45990556_45990557insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA	GRCh38
NC_000021.8:g.47410470_47410471insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA , CM000683.1:g.47410470_47410471insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA	GRCh37
NC_000021.7:g.46234898_46234899insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA	NCBI36
NG_008674.1:g.13808_13809insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA , LRG_475:g.13808_13809insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA MANE Select	ENSP00000355180.3:n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGAT...
ENST00000361866.7:c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA	ENSP00000355180.3:n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGAT...
ENST00000612273.1:c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA	ENSP00000483630.1:n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGAT...
NM_001848.2:c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA , LRG_475t1:c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA	NP_001839.2:n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTG...
NM_001848.3:c.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGA MANE Select	NP_001839.2:n.1002+134_1002+135insTGGGGAGGGACGGGGAGGGATGGGGTG...