Canonical Allele Identifier: CA2654972376

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990468-G-GGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG , CM000683.2:g.45990471_45990472insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG	GRCh38
NC_000021.8:g.47410385_47410386insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG , CM000683.1:g.47410385_47410386insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG	GRCh37
NC_000021.7:g.46234813_46234814insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG	NCBI36
NG_008674.1:g.13723_13724insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG , LRG_475:g.13723_13724insTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATTGGG

Transcript Alleles

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