Canonical Allele Identifier: CA1022881917
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v3: 21-45990594-GGCA-G
gnomAD v4: 21-45990594-GGCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990596_45990598del , CM000683.2:g.45990596_45990598del GRCh38
NC_000021.8:g.47410510_47410512del , CM000683.1:g.47410510_47410512del GRCh37
NC_000021.7:g.46234938_46234940del NCBI36
NG_008674.1:g.13848_13850del , LRG_475:g.13848_13850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+174_1003-175del MANE Select ENSP00000355180.3:n.1002+174_1003-175del
ENST00000361866.7:c.1002+174_1003-175del ENSP00000355180.3:n.1002+174_1003-175del
ENST00000612273.1:c.1002+174_1003-175del ENSP00000483630.1:n.1002+174_1003-175del
NM_001848.2:c.1002+174_1003-175del , LRG_475t1:c.1002+174_1003-175del NP_001839.2:n.1002+174_1003-175del
NM_001848.3:c.1002+174_1003-175del MANE Select NP_001839.2:n.1002+174_1003-175del
Search 100 bp 5'
Search 100 bp 3'