Canonical Allele Identifier: CA638497628
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1384264680
gnomAD v2: 21-47404119-TGGGACGGGTAGCGATGGCGCCA-T
gnomAD v3: 21-45984205-TGGGACGGGTAGCGATGGCGCCA-T
gnomAD v4: 21-45984205-TGGGACGGGTAGCGATGGCGCCA-T
MyVariant Identifiers: chr21:g.47404120_47404141del (hg19) chr21:g.45984206_45984227del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984209_45984230del , CM000683.2:g.45984209_45984230del GRCh38
NC_000021.8:g.47404123_47404144del , CM000683.1:g.47404123_47404144del GRCh37
NC_000021.7:g.46228551_46228572del NCBI36
NG_008674.1:g.7461_7482del , LRG_475:g.7461_7482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-60_228-39del MANE Select ENSP00000355180.3:n.228-60_228-39del
ENST00000361866.7:c.228-60_228-39del ENSP00000355180.3:n.228-60_228-39del
ENST00000612273.1:c.228-60_228-39del ENSP00000483630.1:n.228-60_228-39del
NM_001848.2:c.228-60_228-39del , LRG_475t1:c.228-60_228-39del NP_001839.2:n.228-60_228-39del
NM_001848.3:c.228-60_228-39del MANE Select NP_001839.2:n.228-60_228-39del
Search 100 bp 5'
Search 100 bp 3'