Canonical Allele Identifier: CA749828343

Gene: COL6A1

Linked Data

• dbSNP Id: rs1179414894
• MyVariant Identifiers: chr21:g.47407895_47407918del (hg19) ; chr21:g.45987981_45988004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45988003_45988026del , CM000683.2:g.45988003_45988026del	GRCh38
NC_000021.8:g.47407917_47407940del , CM000683.1:g.47407917_47407940del	GRCh37
NC_000021.7:g.46232345_46232368del	NCBI36
NG_008674.1:g.11255_11278del , LRG_475:g.11255_11278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+349_804+372del MANE Select	ENSP00000355180.3:n.804+349_804+372del
ENST00000361866.7:c.804+349_804+372del	ENSP00000355180.3:n.804+349_804+372del
ENST00000612273.1:c.804+349_804+372del	ENSP00000483630.1:n.804+349_804+372del
NM_001848.2:c.804+349_804+372del , LRG_475t1:c.804+349_804+372del	NP_001839.2:n.804+349_804+372del
NM_001848.3:c.804+349_804+372del MANE Select	NP_001839.2:n.804+349_804+372del