Canonical Allele Identifier: CA749841466
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs984648393
gnomAD v3: 21-46001170-A-AGGAGGGGCCAGGGCGGTGGAGG
gnomAD v4: 21-46001170-A-AGGAGGGGCCAGGGCGGTGGAGG
MyVariant Identifiers: chr21:g.47421084_47421085insGGAGGGGCCAGGGCGGTGGAGG (hg19) chr21:g.46001170_46001171insGGAGGGGCCAGGGCGGTGGAGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001185_46001206dup , CM000683.2:g.46001185_46001206dup GRCh38
NC_000021.8:g.47421099_47421120dup , CM000683.1:g.47421099_47421120dup GRCh37
NC_000021.7:g.46245527_46245548dup NCBI36
NG_008674.1:g.24437_24458dup , LRG_475:g.24437_24458dup

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.221+34_222-47dup
ENST00000361866.8:c.1823-68_1823-47dup MANE Select ENSP00000355180.3:n.1823-68_1823-47dup
ENST00000361866.7:c.1823-68_1823-47dup ENSP00000355180.3:n.1823-68_1823-47dup
ENST00000463060.5:n.221+34_222-47dup
ENST00000612273.1:c.1817-68_1817-47dup ENSP00000483630.1:n.1817-68_1817-47dup
NM_001848.2:c.1823-68_1823-47dup , LRG_475t1:c.1823-68_1823-47dup NP_001839.2:n.1823-68_1823-47dup
NM_001848.3:c.1823-68_1823-47dup MANE Select NP_001839.2:n.1823-68_1823-47dup
Search 100 bp 5'
Search 100 bp 3'