Canonical Allele Identifier: CA62557204
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs955199802
gnomAD v4: 2-189003917-T-TA
MyVariant Identifiers: chr2:g.189868643_189868644insA (hg19) chr2:g.189003917_189003918insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003924dup , CM000664.2:g.189003924dup GRCh38
NC_000002.11:g.189868650dup , CM000664.1:g.189868650dup GRCh37
NC_000002.10:g.189576895dup NCBI36
NG_007404.1:g.34552dup , LRG_3:g.34552dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2563-58dup ENSP00000415346.2:n.2563-58dup
ENST00000304636.9:c.2662-58dup MANE Select ENSP00000304408.4:n.2662-58dup
ENST00000304636.7:c.2662-58dup ENSP00000304408.3:n.2662-58dup
ENST00000317840.9:c.2527+888dup ENSP00000315243.6:n.2527+888dup
NM_000090.3:c.2662-58dup , LRG_3t1:c.2662-58dup NP_000081.1:n.2662-58dup
NM_000090.4:c.2662-58dup MANE Select NP_000081.2:n.2662-58dup
Search 100 bp 5'
Search 100 bp 3'