Canonical Allele Identifier: CA2654959068
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001169-AAGGAGGGGCCAGGGCGGTGGAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001170_46001191del , CM000683.2:g.46001170_46001191del GRCh38
NC_000021.8:g.47421084_47421105del , CM000683.1:g.47421084_47421105del GRCh37
NC_000021.7:g.46245512_46245533del NCBI36
NG_008674.1:g.24422_24443del , LRG_475:g.24422_24443del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.221+19_221+40del
ENST00000361866.8:c.1823-83_1823-62del MANE Select ENSP00000355180.3:n.1823-83_1823-62del
ENST00000361866.7:c.1823-83_1823-62del ENSP00000355180.3:n.1823-83_1823-62del
ENST00000463060.5:n.221+19_221+40del
ENST00000612273.1:c.1817-83_1817-62del ENSP00000483630.1:n.1817-83_1817-62del
NM_001848.2:c.1823-83_1823-62del , LRG_475t1:c.1823-83_1823-62del NP_001839.2:n.1823-83_1823-62del
NM_001848.3:c.1823-83_1823-62del MANE Select NP_001839.2:n.1823-83_1823-62del
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