Canonical Allele Identifier: CA2739291029
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197011_50197012del , CM000679.2:g.50197011_50197012del GRCh38
NC_000017.10:g.48274372_48274373del , CM000679.1:g.48274372_48274373del GRCh37
NC_000017.9:g.45629371_45629372del NCBI36
NG_007400.1:g.9630_9631del , LRG_1:g.9630_9631del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.804_804+1del
ENST00000225964.9:c.804_804+1del
ENST00000495677.1:n.531_531+1del
NM_000088.3:c.804_804+1del , LRG_1t1:c.804_804+1del
XM_005257058.3:c.804_804+1del
XM_005257059.3:c.804_804+1del
XM_011524341.1:c.804_804+1del
XM_005257058.4:c.804_804+1del
XM_005257059.4:c.804_804+1del
NM_000088.4:c.804_804+1del
Search 100 bp 5'
Search 100 bp 3'