Canonical Allele Identifier: CA2654959227
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001303-AGCATTG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001306_46001311del , CM000683.2:g.46001306_46001311del GRCh38
NC_000021.8:g.47421220_47421225del , CM000683.1:g.47421220_47421225del GRCh37
NC_000021.7:g.46245648_46245653del NCBI36
NG_008674.1:g.24558_24563del , LRG_475:g.24558_24563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.275_280del
ENST00000361866.8:c.1876_1881del MANE Select ENSP00000355180.3:p.Ile626_Gly627del
ENST00000361866.7:c.1876_1881del ENSP00000355180.3:p.Ile626_Gly627del
ENST00000463060.5:n.275_280del
ENST00000498614.5:n.110_115del
ENST00000612273.1:c.1870_1875del ENSP00000483630.1:p.Ile624_Gly625del
NM_001848.2:c.1876_1881del , LRG_475t1:c.1876_1881del NP_001839.2:p.Ile626_Gly627del
NM_001848.3:c.1876_1881del MANE Select NP_001839.2:p.Ile626_Gly627del
Search 100 bp 5'
Search 100 bp 3'