Canonical Allele Identifier: CA638178926

Gene: COL6A1

Linked Data

• dbSNP Id: rs1303195865
• gnomAD v2: 21-47410382-G-GCGGAGCCGGGGGTCCCCC
• MyVariant Identifiers: chr21:g.47410382_47410383insCGGAGCCGGGGGTCCCCC (hg19) ; chr21:g.45990468_45990469insCGGAGCCGGGGGTCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990468_45990469insCGGAGCCGGGGGTCCCCC , CM000683.2:g.45990468_45990469insCGGAGCCGGGGGTCCCCC	GRCh38
NC_000021.8:g.47410382_47410383insCGGAGCCGGGGGTCCCCC , CM000683.1:g.47410382_47410383insCGGAGCCGGGGGTCCCCC	GRCh37
NC_000021.7:g.46234810_46234811insCGGAGCCGGGGGTCCCCC	NCBI36
NG_008674.1:g.13720_13721insCGGAGCCGGGGGTCCCCC , LRG_475:g.13720_13721insCGGAGCCGGGGGTCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+46_1002+47insCGGAGCCGGGGGTCCCCC MANE Select	ENSP00000355180.3:n.1002+46_1002+47insCGGAGCCGGGGGTCCCCC
ENST00000361866.7:c.1002+46_1002+47insCGGAGCCGGGGGTCCCCC	ENSP00000355180.3:n.1002+46_1002+47insCGGAGCCGGGGGTCCCCC
ENST00000612273.1:c.1002+46_1002+47insCGGAGCCGGGGGTCCCCC	ENSP00000483630.1:n.1002+46_1002+47insCGGAGCCGGGGGTCCCCC
NM_001848.2:c.1002+46_1002+47insCGGAGCCGGGGGTCCCCC , LRG_475t1:c.1002+46_1002+47insCGGAGCCGGGGGTCCCCC	NP_001839.2:n.1002+46_1002+47insCGGAGCCGGGGGTCCCCC
NM_001848.3:c.1002+46_1002+47insCGGAGCCGGGGGTCCCCC MANE Select	NP_001839.2:n.1002+46_1002+47insCGGAGCCGGGGGTCCCCC