Canonical Allele Identifier: CA2654972642

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990554-G-GGGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990555_45990556insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG , CM000683.2:g.45990555_45990556insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG	GRCh38
NC_000021.8:g.47410469_47410470insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG , CM000683.1:g.47410469_47410470insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG	GRCh37
NC_000021.7:g.46234897_46234898insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG	NCBI36
NG_008674.1:g.13807_13808insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG , LRG_475:g.13807_13808insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG MANE Select	ENSP00000355180.3:n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCA...
ENST00000361866.7:c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG	ENSP00000355180.3:n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCA...
ENST00000612273.1:c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG	ENSP00000483630.1:n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCA...
NM_001848.2:c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG , LRG_475t1:c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG	NP_001839.2:n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCC...
NM_001848.3:c.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCCTCCCTCCAGCCCAG MANE Select	NP_001839.2:n.1002+133_1002+134insGGCCAGTCCCACCCATCCCCACACCCC...