Canonical Allele Identifier: CA638182931
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1389032379
gnomAD v2: 21-47421100-GTGGAGGGGAGGGGCCAGGGCAC-G
gnomAD v3: 21-46001186-GTGGAGGGGAGGGGCCAGGGCAC-G
gnomAD v4: 21-46001186-GTGGAGGGGAGGGGCCAGGGCAC-G
MyVariant Identifiers: chr21:g.47421101_47421122del (hg19) chr21:g.46001187_46001208del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001201_46001222del , CM000683.2:g.46001201_46001222del GRCh38
NC_000021.8:g.47421115_47421136del , CM000683.1:g.47421115_47421136del GRCh37
NC_000021.7:g.46245543_46245564del NCBI36
NG_008674.1:g.24453_24474del , LRG_475:g.24453_24474del

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.221+50_222-31del
ENST00000361866.8:c.1823-52_1823-31del MANE Select ENSP00000355180.3:n.1823-52_1823-31del
ENST00000361866.7:c.1823-52_1823-31del ENSP00000355180.3:n.1823-52_1823-31del
ENST00000463060.5:n.221+50_222-31del
ENST00000612273.1:c.1817-52_1817-31del ENSP00000483630.1:n.1817-52_1817-31del
NM_001848.2:c.1823-52_1823-31del , LRG_475t1:c.1823-52_1823-31del NP_001839.2:n.1823-52_1823-31del
NM_001848.3:c.1823-52_1823-31del MANE Select NP_001839.2:n.1823-52_1823-31del
Search 100 bp 5'
Search 100 bp 3'