Canonical Allele Identifier: CA2654972653

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990558-GGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990565_45990612del , CM000683.2:g.45990565_45990612del	GRCh38
NC_000021.8:g.47410479_47410526del , CM000683.1:g.47410479_47410526del	GRCh37
NC_000021.7:g.46234907_46234954del	NCBI36
NG_008674.1:g.13817_13864del , LRG_475:g.13817_13864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+143_1003-161del MANE Select	ENSP00000355180.3:n.1002+143_1003-161del
ENST00000361866.7:c.1002+143_1003-161del	ENSP00000355180.3:n.1002+143_1003-161del
ENST00000612273.1:c.1002+143_1003-161del	ENSP00000483630.1:n.1002+143_1003-161del
NM_001848.2:c.1002+143_1003-161del , LRG_475t1:c.1002+143_1003-161del	NP_001839.2:n.1002+143_1003-161del
NM_001848.3:c.1002+143_1003-161del MANE Select	NP_001839.2:n.1002+143_1003-161del