Canonical Allele Identifier: CA1022879614
Gene: COL6A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990409_45990420del , CM000683.2:g.45990409_45990420del GRCh38
NC_000021.8:g.47410323_47410334del , CM000683.1:g.47410323_47410334del GRCh37
NC_000021.7:g.46234751_46234762del NCBI36
NG_008674.1:g.13661_13672del , LRG_475:g.13661_13672del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.989_1000del MANE Select ENSP00000355180.3:p.Val330_Lys334delinsGlu
ENST00000361866.7:c.989_1000del ENSP00000355180.3:p.Val330_Lys334delinsGlu
ENST00000612273.1:c.989_1000del ENSP00000483630.1:p.Val330_Lys334delinsGlu
NM_001848.2:c.989_1000del , LRG_475t1:c.989_1000del NP_001839.2:p.Val330_Lys334delinsGlu
NM_001848.3:c.989_1000del MANE Select NP_001839.2:p.Val330_Lys334delinsGlu