Canonical Allele Identifier: CA62594810
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs530653274
MyVariant Identifiers: chr2:g.189858461del (hg19) chr2:g.188993735del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993735del , CM000664.2:g.188993735del GRCh38
NC_000002.11:g.189858461del , CM000664.1:g.189858461del GRCh37
NC_000002.10:g.189566706del NCBI36
NG_007404.1:g.24363del , LRG_3:g.24363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-303del ENSP00000415346.2:n.1051-303del
ENST00000304636.9:c.1149+276del MANE Select ENSP00000304408.4:n.1149+276del
ENST00000304636.7:c.1149+276del ENSP00000304408.3:n.1149+276del
ENST00000317840.9:c.1149+276del ENSP00000315243.6:n.1149+276del
ENST00000450867.1:c.149-303del
NM_000090.3:c.1149+276del , LRG_3t1:c.1149+276del NP_000081.1:n.1149+276del
NM_000090.4:c.1149+276del MANE Select NP_000081.2:n.1149+276del
Search 100 bp 5'
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