Canonical Allele Identifier: CA291547548
Gene: COL1A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48274365_48274368del (hg19) chr17:g.50197004_50197007del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197008_50197011del , CM000679.2:g.50197008_50197011del GRCh38
NC_000017.10:g.48274369_48274372del , CM000679.1:g.48274369_48274372del GRCh37
NC_000017.9:g.45629368_45629371del NCBI36
NG_007400.1:g.9633_9636del , LRG_1:g.9633_9636del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.804+3_804+6del
ENST00000225964.9:c.804+3_804+6del
ENST00000495677.1:n.531+3_531+6del
NM_000088.3:c.804+3_804+6del , LRG_1t1:c.804+3_804+6del
XM_005257058.3:c.804+3_804+6del
XM_005257059.3:c.804+3_804+6del
XM_011524341.1:c.804+3_804+6del
XM_005257058.4:c.804+3_804+6del
XM_005257059.4:c.804+3_804+6del
NM_000088.4:c.804+3_804+6del
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