Canonical Allele Identifier: CA10069967

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 1947358
• ClinVar RCV Id: RCV002654415
• dbSNP Id: rs780180648
• ExAC: 21:47410352 T / TAGGATGGACGGGGAGGGACG
• gnomAD v2: 21-47410352-T-TAGGATGGACGGGGAGGGACG
• gnomAD v3: 21-45990438-T-TAGGATGGACGGGGAGGGACG
• gnomAD v4: 21-45990438-T-TAGGATGGACGGGGAGGGACG
• MyVariant Identifiers: chr21:g.47410352_47410353insAGGATGGACGGGGAGGGACG (hg19) ; chr21:g.45990438_45990439insAGGATGGACGGGGAGGGACG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990443_45990462dup , CM000683.2:g.45990443_45990462dup	GRCh38
NC_000021.8:g.47410357_47410376dup , CM000683.1:g.47410357_47410376dup	GRCh37
NC_000021.7:g.46234785_46234804dup	NCBI36
NG_008674.1:g.13695_13714dup , LRG_475:g.13695_13714dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+21_1002+40dup MANE Select	ENSP00000355180.3:n.1002+21_1002+40dup
ENST00000361866.7:c.1002+21_1002+40dup	ENSP00000355180.3:n.1002+21_1002+40dup
ENST00000612273.1:c.1002+21_1002+40dup	ENSP00000483630.1:n.1002+21_1002+40dup
NM_001848.2:c.1002+21_1002+40dup , LRG_475t1:c.1002+21_1002+40dup	NP_001839.2:n.1002+21_1002+40dup
NM_001848.3:c.1002+21_1002+40dup MANE Select	NP_001839.2:n.1002+21_1002+40dup