Canonical Allele Identifier: CA538448895
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1559060820
gnomAD v2: 2-189868977-T-TC
gnomAD v4: 2-189004251-T-TC
MyVariant Identifiers: chr2:g.189868977_189868978insC (hg19) chr2:g.189004251_189004252insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004251_189004252insC , CM000664.2:g.189004251_189004252insC GRCh38
NC_000002.11:g.189868977_189868978insC , CM000664.1:g.189868977_189868978insC GRCh37
NC_000002.10:g.189577222_189577223insC NCBI36
NG_007404.1:g.34879_34880insC , LRG_3:g.34879_34880insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2725-6_2725-5insC ENSP00000415346.2:n.2725-6_2725-5insC
ENST00000304636.9:c.2824-6_2824-5insC MANE Select ENSP00000304408.4:n.2824-6_2824-5insC
ENST00000304636.7:c.2824-6_2824-5insC ENSP00000304408.3:n.2824-6_2824-5insC
ENST00000317840.9:c.2527+1215_2527+1216insC ENSP00000315243.6:n.2527+1215_2527+1216insC
NM_000090.3:c.2824-6_2824-5insC , LRG_3t1:c.2824-6_2824-5insC NP_000081.1:n.2824-6_2824-5insC
NM_000090.4:c.2824-6_2824-5insC MANE Select NP_000081.2:n.2824-6_2824-5insC
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