Canonical Allele Identifier: CA2818093040
Gene: COL6A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990465_45990466insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG GRCh38
NC_000021.8:g.47410379_47410380insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG GRCh37
NC_000021.7:g.46234807_46234808insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG NCBI36
NG_008674.1:g.13717_13718insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG MANE Select ENSP00000355180.3:n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGG...
ENST00000361866.7:c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG ENSP00000355180.3:n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGG...
ENST00000612273.1:c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG ENSP00000483630.1:n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGG...
NM_001848.2:c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG , LRG_475t1:c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG NP_001839.2:n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAG...
NM_001848.3:c.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAGGTGACCAGGGGAAGGAGGGGGAGGACCAGGGGAAGGACGGGGAGGGACGGGGAGGG MANE Select NP_001839.2:n.1002+43_1002+44insCGGGGAGGGAGGGGGGGGACAGGGTGAAG...