Canonical Allele Identifier: CA638178880

Gene: COL6A1

Linked Data

• dbSNP Id: rs1445395349
• gnomAD v2: 21-47410340-A-AC
• gnomAD v3: 21-45990426-A-AC
• gnomAD v4: 21-45990426-A-AC
• MyVariant Identifiers: chr21:g.47410340_47410341insC (hg19) ; chr21:g.45990426_45990427insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990427dup , CM000683.2:g.45990427dup	GRCh38
NC_000021.8:g.47410341dup , CM000683.1:g.47410341dup	GRCh37
NC_000021.7:g.46234769dup	NCBI36
NG_008674.1:g.13679dup , LRG_475:g.13679dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+5dup MANE Select	ENSP00000355180.3:n.1002+5dup
ENST00000361866.7:c.1002+5dup	ENSP00000355180.3:n.1002+5dup
ENST00000612273.1:c.1002+5dup	ENSP00000483630.1:n.1002+5dup
NM_001848.2:c.1002+5dup , LRG_475t1:c.1002+5dup	NP_001839.2:n.1002+5dup
NM_001848.3:c.1002+5dup MANE Select	NP_001839.2:n.1002+5dup