Canonical Allele Identifier: CA10069496
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs776902231
ExAC: 21:47404146 CCGCCCGCCTCA / C
gnomAD v2: 21-47404146-CCGCCCGCCTCA-C
gnomAD v4: 21-45984232-CCGCCCGCCTCA-C
MyVariant Identifiers: chr21:g.47404147_47404157del (hg19) chr21:g.45984233_45984243del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984241_45984251del , CM000683.2:g.45984241_45984251del GRCh38
NC_000021.8:g.47404155_47404165del , CM000683.1:g.47404155_47404165del GRCh37
NC_000021.7:g.46228583_46228593del NCBI36
NG_008674.1:g.7493_7503del , LRG_475:g.7493_7503del

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.228-28_228-18del MANE Select ENSP00000355180.3:n.228-28_228-18del
ENST00000361866.7:c.228-28_228-18del ENSP00000355180.3:n.228-28_228-18del
ENST00000612273.1:c.228-28_228-18del ENSP00000483630.1:n.228-28_228-18del
NM_001848.2:c.228-28_228-18del , LRG_475t1:c.228-28_228-18del NP_001839.2:n.228-28_228-18del
NM_001848.3:c.228-28_228-18del MANE Select NP_001839.2:n.228-28_228-18del
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