Canonical Allele Identifier: CA2654972368

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990467-T-TGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG , CM000683.2:g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG	GRCh38
NC_000021.8:g.47410385_47410386insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG , CM000683.1:g.47410385_47410386insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG	GRCh37
NC_000021.7:g.46234813_46234814insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG	NCBI36
NG_008674.1:g.13723_13724insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG , LRG_475:g.13723_13724insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG MANE Select	ENSP00000355180.3:n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGG...
ENST00000361866.7:c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG	ENSP00000355180.3:n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGG...
ENST00000612273.1:c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG	ENSP00000483630.1:n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGG...
NM_001848.2:c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG , LRG_475t1:c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG	NP_001839.2:n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGG...
NM_001848.3:c.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGGGGGACGGGGAGGGAGGGGG MANE Select	NP_001839.2:n.1002+49_1002+50insTGGACAGTGTGAAGGTGACCAGGGGAAGG...