Canonical Allele Identifier: CA2662288699
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-188993529-T-TTCATGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993529_188993530insTCATGG , CM000664.2:g.188993529_188993530insTCATGG GRCh38
NC_000002.11:g.189858255_189858256insTCATGG , CM000664.1:g.189858255_189858256insTCATGG GRCh37
NC_000002.10:g.189566500_189566501insTCATGG NCBI36
NG_007404.1:g.24157_24158insTCATGG , LRG_3:g.24157_24158insTCATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-509_1051-508insTCATGG ENSP00000415346.2:n.1051-509_1051-508insTCATGG
ENST00000304636.9:c.1149+70_1149+71insTCATGG MANE Select ENSP00000304408.4:n.1149+70_1149+71insTCATGG
ENST00000304636.7:c.1149+70_1149+71insTCATGG ENSP00000304408.3:n.1149+70_1149+71insTCATGG
ENST00000317840.9:c.1149+70_1149+71insTCATGG ENSP00000315243.6:n.1149+70_1149+71insTCATGG
ENST00000450867.1:c.149-509_149-508insTCATGG
NM_000090.3:c.1149+70_1149+71insTCATGG , LRG_3t1:c.1149+70_1149+71insTCATGG NP_000081.1:n.1149+70_1149+71insTCATGG
NM_000090.4:c.1149+70_1149+71insTCATGG MANE Select NP_000081.2:n.1149+70_1149+71insTCATGG
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