Canonical Allele Identifier: CA645527369
Gene: COL3A1 HGNC NCBI

Linked Data

COSMIC: COSM310240
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991681_188991698del , CM000664.2:g.188991681_188991698del GRCh38
NC_000002.11:g.189856407_189856424del , CM000664.1:g.189856407_189856424del GRCh37
NC_000002.10:g.189564652_189564669del NCBI36
NG_007404.1:g.22309_22326del , LRG_3:g.22309_22326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.910_927del ENSP00000415346.2:p.Ala304_Gly309del
ENST00000304636.9:c.910_927del MANE Select ENSP00000304408.4:p.Ala304_Gly309del
ENST00000304636.7:c.910_927del ENSP00000304408.3:p.Ala304_Gly309del
ENST00000317840.9:c.910_927del ENSP00000315243.6:p.Ala304_Gly309del
ENST00000450867.1:c.8_25del
NM_000090.3:c.910_927del , LRG_3t1:c.910_927del NP_000081.1:p.Ala304_Gly309del
NM_000090.4:c.910_927del MANE Select NP_000081.2:p.Ala304_Gly309del
Search 100 bp 5'
Search 100 bp 3'