Canonical Allele Identifier: CA1022881831
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v3: 21-45990559-GGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCA-G
gnomAD v4: 21-45990559-GGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990568_45990605del , CM000683.2:g.45990568_45990605del GRCh38
NC_000021.8:g.47410482_47410519del , CM000683.1:g.47410482_47410519del GRCh37
NC_000021.7:g.46234910_46234947del NCBI36
NG_008674.1:g.13820_13857del , LRG_475:g.13820_13857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+146_1003-168del MANE Select ENSP00000355180.3:n.1002+146_1003-168del
ENST00000361866.7:c.1002+146_1003-168del ENSP00000355180.3:n.1002+146_1003-168del
ENST00000612273.1:c.1002+146_1003-168del ENSP00000483630.1:n.1002+146_1003-168del
NM_001848.2:c.1002+146_1003-168del , LRG_475t1:c.1002+146_1003-168del NP_001839.2:n.1002+146_1003-168del
NM_001848.3:c.1002+146_1003-168del MANE Select NP_001839.2:n.1002+146_1003-168del
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