Canonical Allele Identifier: CA286446
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101462
ClinVar RCV Id: RCV000087701
dbSNP Id: rs587779700
MyVariant Identifiers: chr2:g.189863394_189863403del (hg19) chr2:g.188998668_188998677del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188998668_188998677del , CM000664.2:g.188998668_188998677del GRCh38
NC_000002.11:g.189863394_189863403del , CM000664.1:g.189863394_189863403del GRCh37
NC_000002.10:g.189571639_189571648del NCBI36
NG_007404.1:g.29296_29305del , LRG_3:g.29296_29305del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1879-6_1882del
ENST00000304636.9:c.1978-6_1981del
ENST00000304636.7:c.1978-6_1981del
ENST00000317840.9:c.1978-6_1981del
NM_000090.3:c.1978-6_1981del , LRG_3t1:c.1978-6_1981del
NM_000090.4:c.1978-6_1981del
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