Canonical Allele Identifier: CA2586965498
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188992223_188992237del , CM000664.2:g.188992223_188992237del GRCh38
NC_000002.11:g.189856949_189856963del , CM000664.1:g.189856949_189856963del GRCh37
NC_000002.10:g.189565194_189565208del NCBI36
NG_007404.1:g.22851_22865del , LRG_3:g.22851_22865del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.991_996+9del
ENST00000304636.9:c.991_996+9del
ENST00000304636.7:c.991_996+9del
ENST00000317840.9:c.991_996+9del
ENST00000450867.1:c.89_94+9del
NM_000090.3:c.991_996+9del , LRG_3t1:c.991_996+9del
NM_000090.4:c.991_996+9del
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