Canonical Allele Identifier: CA2695230385
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989103_45989117del , CM000683.2:g.45989103_45989117del GRCh38
NC_000021.8:g.47409017_47409031del , CM000683.1:g.47409017_47409031del GRCh37
NC_000021.7:g.46233445_46233459del NCBI36
NG_008674.1:g.12355_12369del , LRG_475:g.12355_12369del

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.824_838del MANE Select ENSP00000355180.3:p.Gly275_Lys280delinsGlu
ENST00000361866.7:c.824_838del ENSP00000355180.3:p.Gly275_Lys280delinsGlu
ENST00000612273.1:c.824_838del ENSP00000483630.1:p.Gly275_Lys280delinsGlu
NM_001848.2:c.824_838del , LRG_475t1:c.824_838del NP_001839.2:p.Gly275_Lys280delinsGlu
NM_001848.3:c.824_838del MANE Select NP_001839.2:p.Gly275_Lys280delinsGlu
Search 100 bp 5'
Search 100 bp 3'