Canonical Allele Identifier: CA2654972349

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990466-A-AGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990466_45990467insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC , CM000683.2:g.45990466_45990467insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC	GRCh38
NC_000021.8:g.47410380_47410381insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC , CM000683.1:g.47410380_47410381insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC	GRCh37
NC_000021.7:g.46234808_46234809insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC	NCBI36
NG_008674.1:g.13718_13719insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC , LRG_475:g.13718_13719insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC MANE Select	ENSP00000355180.3:n.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGA...
ENST00000361866.7:c.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC	ENSP00000355180.3:n.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGA...
ENST00000612273.1:c.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC	ENSP00000483630.1:n.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGA...
NM_001848.2:c.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC , LRG_475t1:c.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC	NP_001839.2:n.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACG...
NM_001848.3:c.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACGGGGAGGGC MANE Select	NP_001839.2:n.1002+44_1002+45insGGTGACCAGGGGACGGACGGGGAGGGACG...