Canonical Allele Identifier: CA1022881956

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077771239
• gnomAD v3: 21-45990610-A-ACGGCGTGAAGGTGACCCGG
• gnomAD v4: 21-45990610-A-ACGGCGTGAAGGTGACCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990610_45990611insCGGCGTGAAGGTGACCCGG , CM000683.2:g.45990610_45990611insCGGCGTGAAGGTGACCCGG	GRCh38
NC_000021.8:g.47410524_47410525insCGGCGTGAAGGTGACCCGG , CM000683.1:g.47410524_47410525insCGGCGTGAAGGTGACCCGG	GRCh37
NC_000021.7:g.46234952_46234953insCGGCGTGAAGGTGACCCGG	NCBI36
NG_008674.1:g.13862_13863insCGGCGTGAAGGTGACCCGG , LRG_475:g.13862_13863insCGGCGTGAAGGTGACCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-163_1003-162insCGGCGTGAAGGTGACCCGG MANE Select	ENSP00000355180.3:n.1003-163_1003-162insCGGCGTGAAGGTGACCCGG
ENST00000361866.7:c.1003-163_1003-162insCGGCGTGAAGGTGACCCGG	ENSP00000355180.3:n.1003-163_1003-162insCGGCGTGAAGGTGACCCGG
ENST00000612273.1:c.1003-163_1003-162insCGGCGTGAAGGTGACCCGG	ENSP00000483630.1:n.1003-163_1003-162insCGGCGTGAAGGTGACCCGG
NM_001848.2:c.1003-163_1003-162insCGGCGTGAAGGTGACCCGG , LRG_475t1:c.1003-163_1003-162insCGGCGTGAAGGTGACCCGG	NP_001839.2:n.1003-163_1003-162insCGGCGTGAAGGTGACCCGG
NM_001848.3:c.1003-163_1003-162insCGGCGTGAAGGTGACCCGG MANE Select	NP_001839.2:n.1003-163_1003-162insCGGCGTGAAGGTGACCCGG