Canonical Allele Identifier: CA2753571869
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003901_189003902insCCAAACACACCCAAC , CM000664.2:g.189003901_189003902insCCAAACACACCCAAC GRCh38
NC_000002.11:g.189868627_189868628insCCAAACACACCCAAC , CM000664.1:g.189868627_189868628insCCAAACACACCCAAC GRCh37
NC_000002.10:g.189576872_189576873insCCAAACACACCCAAC NCBI36
NG_007404.1:g.34529_34530insCCAAACACACCCAAC , LRG_3:g.34529_34530insCCAAACACACCCAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2563-81_2563-80insCCAAACACACCCAAC ENSP00000415346.2:n.2563-81_2563-80insCCAAACACACCCAAC
ENST00000304636.9:c.2662-81_2662-80insCCAAACACACCCAAC MANE Select ENSP00000304408.4:n.2662-81_2662-80insCCAAACACACCCAAC
ENST00000304636.7:c.2662-81_2662-80insCCAAACACACCCAAC ENSP00000304408.3:n.2662-81_2662-80insCCAAACACACCCAAC
ENST00000317840.9:c.2527+865_2527+866insCCAAACACACCCAAC ENSP00000315243.6:n.2527+865_2527+866insCCAAACACACCCAAC
ENST00000467886.1:n.210_211insCCAAACACACCCAAC
NM_000090.3:c.2662-81_2662-80insCCAAACACACCCAAC , LRG_3t1:c.2662-81_2662-80insCCAAACACACCCAAC NP_000081.1:n.2662-81_2662-80insCCAAACACACCCAAC
NM_000090.4:c.2662-81_2662-80insCCAAACACACCCAAC MANE Select NP_000081.2:n.2662-81_2662-80insCCAAACACACCCAAC