Canonical Allele Identifier: CA638183032

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569519060
• gnomAD v2: 21-47421343-C-CCCGACCCTGCCGG
• MyVariant Identifiers: chr21:g.47421343_47421344insCCGACCCTGCCGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001433_46001445dup , CM000683.2:g.46001433_46001445dup	GRCh38
NC_000021.8:g.47421347_47421359dup , CM000683.1:g.47421347_47421359dup	GRCh37
NC_000021.7:g.46245775_46245787dup	NCBI36
NG_008674.1:g.24685_24697dup , LRG_475:g.24685_24697dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.355+47_355+59dup
ENST00000612273.2:c.82+47_82+59dup
ENST00000682634.1:c.82+47_82+59dup
ENST00000361866.8:c.1956+47_1956+59dup MANE Select	ENSP00000355180.3:n.1956+47_1956+59dup
ENST00000361866.7:c.1956+47_1956+59dup	ENSP00000355180.3:n.1956+47_1956+59dup
ENST00000463060.5:n.355+47_355+59dup
ENST00000498614.5:n.190+47_190+59dup
ENST00000612273.1:c.1950+47_1950+59dup	ENSP00000483630.1:n.1950+47_1950+59dup
NM_001848.2:c.1956+47_1956+59dup , LRG_475t1:c.1956+47_1956+59dup	NP_001839.2:n.1956+47_1956+59dup
NM_001848.3:c.1956+47_1956+59dup MANE Select	NP_001839.2:n.1956+47_1956+59dup