Canonical Allele Identifier: CA1022878131
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077748964
gnomAD v3: 21-45987792-G-GAT
gnomAD v4: 21-45987792-G-GAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987792_45987793insAT , CM000683.2:g.45987792_45987793insAT GRCh38
NC_000021.8:g.47407706_47407707insAT , CM000683.1:g.47407706_47407707insAT GRCh37
NC_000021.7:g.46232134_46232135insAT NCBI36
NG_008674.1:g.11044_11045insAT , LRG_475:g.11044_11045insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+138_804+139insAT MANE Select ENSP00000355180.3:n.804+138_804+139insAT
ENST00000361866.7:c.804+138_804+139insAT ENSP00000355180.3:n.804+138_804+139insAT
ENST00000612273.1:c.804+138_804+139insAT ENSP00000483630.1:n.804+138_804+139insAT
NM_001848.2:c.804+138_804+139insAT , LRG_475t1:c.804+138_804+139insAT NP_001839.2:n.804+138_804+139insAT
NM_001848.3:c.804+138_804+139insAT MANE Select NP_001839.2:n.804+138_804+139insAT
Search 100 bp 5'
Search 100 bp 3'