Canonical Allele Identifier: CA2654957202

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987792-G-GAGTCCAGATGGAGGGGACGGCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987792_45987793insAGTCCAGATGGAGGGGACGGCGT , CM000683.2:g.45987792_45987793insAGTCCAGATGGAGGGGACGGCGT	GRCh38
NC_000021.8:g.47407706_47407707insAGTCCAGATGGAGGGGACGGCGT , CM000683.1:g.47407706_47407707insAGTCCAGATGGAGGGGACGGCGT	GRCh37
NC_000021.7:g.46232134_46232135insAGTCCAGATGGAGGGGACGGCGT	NCBI36
NG_008674.1:g.11044_11045insAGTCCAGATGGAGGGGACGGCGT , LRG_475:g.11044_11045insAGTCCAGATGGAGGGGACGGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT MANE Select	ENSP00000355180.3:n.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT...
ENST00000361866.7:c.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT	ENSP00000355180.3:n.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT...
ENST00000612273.1:c.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT	ENSP00000483630.1:n.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT...
NM_001848.2:c.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT , LRG_475t1:c.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT	NP_001839.2:n.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT
NM_001848.3:c.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT MANE Select	NP_001839.2:n.804+138_804+139insAGTCCAGATGGAGGGGACGGCGT