Canonical Allele Identifier: CA762194805
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1426136131
gnomAD v3: 2-188994166-AT-A
gnomAD v4: 2-188994166-AT-A
MyVariant Identifiers: chr2:g.189858893del (hg19) chr2:g.188994167del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994169del , CM000664.2:g.188994169del GRCh38
NC_000002.11:g.189858895del , CM000664.1:g.189858895del GRCh37
NC_000002.10:g.189567140del NCBI36
NG_007404.1:g.24797del , LRG_3:g.24797del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1096-65del ENSP00000415346.2:n.1096-65del
ENST00000304636.9:c.1195-65del MANE Select ENSP00000304408.4:n.1195-65del
ENST00000304636.7:c.1195-65del ENSP00000304408.3:n.1195-65del
ENST00000317840.9:c.1195-65del ENSP00000315243.6:n.1195-65del
ENST00000450867.1:c.194-65del
NM_000090.3:c.1195-65del , LRG_3t1:c.1195-65del NP_000081.1:n.1195-65del
NM_000090.4:c.1195-65del MANE Select NP_000081.2:n.1195-65del
Search 100 bp 5'
Search 100 bp 3'