Canonical Allele Identifier: CA749823833
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1262498805
gnomAD v3: 21-45984019-AGCAGG-A
gnomAD v4: 21-45984019-AGCAGG-A
MyVariant Identifiers: chr21:g.47403934_47403938del (hg19) chr21:g.45984020_45984024del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984022_45984026del , CM000683.2:g.45984022_45984026del GRCh38
NC_000021.8:g.47403936_47403940del , CM000683.1:g.47403936_47403940del GRCh37
NC_000021.7:g.46228364_46228368del NCBI36
NG_008674.1:g.7274_7278del , LRG_475:g.7274_7278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-247_228-243del MANE Select ENSP00000355180.3:n.228-247_228-243del
ENST00000361866.7:c.228-247_228-243del ENSP00000355180.3:n.228-247_228-243del
ENST00000612273.1:c.228-247_228-243del ENSP00000483630.1:n.228-247_228-243del
NM_001848.2:c.228-247_228-243del , LRG_475t1:c.228-247_228-243del NP_001839.2:n.228-247_228-243del
NM_001848.3:c.228-247_228-243del MANE Select NP_001839.2:n.228-247_228-243del
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