Canonical Allele Identifier: CA2662311128
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189008367-ATCAGAATAATGACATCTGCCCAATTAACCAAATAAACCCTGTCCACATTGCTATCCCACTAGAGATC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008375_189008441del , CM000664.2:g.189008375_189008441del GRCh38
NC_000002.11:g.189873101_189873167del , CM000664.1:g.189873101_189873167del GRCh37
NC_000002.10:g.189581346_189581412del NCBI36
NG_007404.1:g.39003_39069del , LRG_3:g.39003_39069del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3426+233_3426+299del ENSP00000415346.2:n.3426+233_3426+299del
ENST00000304636.9:c.3525+233_3525+299del MANE Select ENSP00000304408.4:n.3525+233_3525+299del
ENST00000304636.7:c.3525+233_3525+299del ENSP00000304408.3:n.3525+233_3525+299del
ENST00000317840.9:c.2616+233_2616+299del ENSP00000315243.6:n.2616+233_2616+299del
ENST00000487010.1:n.74_140del
NM_000090.3:c.3525+233_3525+299del , LRG_3t1:c.3525+233_3525+299del NP_000081.1:n.3525+233_3525+299del
NM_000090.4:c.3525+233_3525+299del MANE Select NP_000081.2:n.3525+233_3525+299del
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