Canonical Allele Identifier: CA10070003
Gene: COL6A1 HGNC NCBI

Linked Data

ExAC: 21:47410379 AATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGG / A
gnomAD v4: 21-45990465-AATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGG-A
MyVariant Identifiers: chr21:g.47410380_47410434del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990472_45990526del , CM000683.2:g.45990472_45990526del GRCh38
NC_000021.8:g.47410386_47410440del , CM000683.1:g.47410386_47410440del GRCh37
NC_000021.7:g.46234814_46234868del NCBI36
NG_008674.1:g.13724_13778del , LRG_475:g.13724_13778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+50_1002+104del MANE Select ENSP00000355180.3:n.1002+50_1002+104del
ENST00000361866.7:c.1002+50_1002+104del ENSP00000355180.3:n.1002+50_1002+104del
ENST00000612273.1:c.1002+50_1002+104del ENSP00000483630.1:n.1002+50_1002+104del
NM_001848.2:c.1002+50_1002+104del , LRG_475t1:c.1002+50_1002+104del NP_001839.2:n.1002+50_1002+104del
NM_001848.3:c.1002+50_1002+104del MANE Select NP_001839.2:n.1002+50_1002+104del
Search 100 bp 5'
Search 100 bp 3'