Canonical Allele Identifier: CA920320823

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517957
• gnomAD v3: 21-45987766-G-GGGGGTCCAGATGGAGGGGACGGC
• gnomAD v4: 21-45987766-G-GGGGGTCCAGATGGAGGGGACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987771_45987793dup , CM000683.2:g.45987771_45987793dup	GRCh38
NC_000021.8:g.47407685_47407707dup , CM000683.1:g.47407685_47407707dup	GRCh37
NC_000021.7:g.46232113_46232135dup	NCBI36
NG_008674.1:g.11023_11045dup , LRG_475:g.11023_11045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+117_804+139dup MANE Select	ENSP00000355180.3:n.804+117_804+139dup
ENST00000361866.7:c.804+117_804+139dup	ENSP00000355180.3:n.804+117_804+139dup
ENST00000612273.1:c.804+117_804+139dup	ENSP00000483630.1:n.804+117_804+139dup
NM_001848.2:c.804+117_804+139dup , LRG_475t1:c.804+117_804+139dup	NP_001839.2:n.804+117_804+139dup
NM_001848.3:c.804+117_804+139dup MANE Select	NP_001839.2:n.804+117_804+139dup