Canonical Allele Identifier: CA2392432207
Gene: COL6A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987754_45987778delinsAGAGGGGACGGCGGGGGTCCAGATG , CM000683.2:g.45987754_45987778delinsAGAGGGGACGGCGGGGGTCCAGATG GRCh38
NC_000021.8:g.47407668_47407692delinsAGAGGGGACGGCGGGGGTCCAGATG , CM000683.1:g.47407668_47407692delinsAGAGGGGACGGCGGGGGTCCAGATG GRCh37
NC_000021.7:g.46232096_46232120delinsAGAGGGGACGGCGGGGGTCCAGATG NCBI36
NG_008674.1:g.11006_11030delinsAGAGGGGACGGCGGGGGTCCAGATG , LRG_475:g.11006_11030delinsAGAGGGGACGGCGGGGGTCCAGATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG MANE Select ENSP00000355180.3:n.804+100_804+124delinsAGAGGGGACGGCGGGGGTCC...
ENST00000361866.7:c.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG ENSP00000355180.3:n.804+100_804+124delinsAGAGGGGACGGCGGGGGTCC...
ENST00000612273.1:c.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG ENSP00000483630.1:n.804+100_804+124delinsAGAGGGGACGGCGGGGGTCC...
NM_001848.2:c.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG , LRG_475t1:c.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG NP_001839.2:n.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG
NM_001848.3:c.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG MANE Select NP_001839.2:n.804+100_804+124delinsAGAGGGGACGGCGGGGGTCCAGATG
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