Canonical Allele Identifier: CA127114
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17175
ClinVar RCV Id: RCV003764605
MyVariant Identifiers: chr21:g.47408426_47409571delinsTCCCTCCCCATTTCC (hg19) chr21:g.45988512_45989657delinsTCCCTCCCCATTTCC (hg38)
PubMed: PMID:12840783
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45988512_45989657delinsTCCCTCCCCATTTCC , CM000683.2:g.45988512_45989657delinsTCCCTCCCCATTTCC GRCh38
NC_000021.8:g.47408426_47409571delinsTCCCTCCCCATTTCC , CM000683.1:g.47408426_47409571delinsTCCCTCCCCATTTCC GRCh37
NC_000021.7:g.46232854_46233999delinsTCCCTCCCCATTTCC NCBI36
NG_008674.1:g.11764_12909delinsTCCCTCCCCATTTCC , LRG_475:g.11764_12909delinsTCCCTCCCCATTTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.805-572_903+5delinsTCCCTCCCCATTTCC
ENST00000361866.7:c.805-572_903+5delinsTCCCTCCCCATTTCC
ENST00000612273.1:c.805-572_903+5delinsTCCCTCCCCATTTCC
NM_001848.2:c.805-572_903+5delinsTCCCTCCCCATTTCC , LRG_475t1:c.805-572_903+5delinsTCCCTCCCCATTTCC
NM_001848.3:c.805-572_903+5delinsTCCCTCCCCATTTCC
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