Canonical Allele Identifier: CA538462338
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1360598627
gnomAD v2: 2-189860743-C-CT
gnomAD v3: 2-188996017-C-CT
gnomAD v4: 2-188996017-C-CT
MyVariant Identifiers: chr2:g.189860743_189860744insT (hg19) chr2:g.188996017_188996018insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996018dup , CM000664.2:g.188996018dup GRCh38
NC_000002.11:g.189860744dup , CM000664.1:g.189860744dup GRCh37
NC_000002.10:g.189568989dup NCBI36
NG_007404.1:g.26646dup , LRG_3:g.26646dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1510-107dup ENSP00000415346.2:n.1510-107dup
ENST00000304636.9:c.1609-107dup MANE Select ENSP00000304408.4:n.1609-107dup
ENST00000304636.7:c.1609-107dup ENSP00000304408.3:n.1609-107dup
ENST00000317840.9:c.1609-107dup ENSP00000315243.6:n.1609-107dup
NM_000090.3:c.1609-107dup , LRG_3t1:c.1609-107dup NP_000081.1:n.1609-107dup
NM_000090.4:c.1609-107dup MANE Select NP_000081.2:n.1609-107dup
Search 100 bp 5'
Search 100 bp 3'