Canonical Allele Identifier: CA2695226689
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196365dup , CM000679.2:g.50196365dup GRCh38
NC_000017.10:g.48273726dup , CM000679.1:g.48273726dup GRCh37
NC_000017.9:g.45628725dup NCBI36
NG_007400.1:g.10279dup , LRG_1:g.10279dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.910dup MANE Select ENSP00000225964.6:p.Arg304ProfsTer6
ENST00000225964.9:c.910dup ENSP00000225964.5:p.Arg304ProfsTer6
ENST00000485870.1:n.235dup
NM_000088.3:c.910dup , LRG_1t1:c.910dup NP_000079.2:p.Arg304ProfsTer6
XM_005257058.3:c.910dup XP_005257115.2:p.Arg304ProfsTer6
XM_005257059.3:c.910dup XP_005257116.2:p.Arg304ProfsTer6
XM_011524341.1:c.910dup XP_011522643.1:p.Arg304ProfsTer6
XM_005257058.4:c.910dup XP_005257115.2:p.Arg304ProfsTer6
XM_005257059.4:c.910dup XP_005257116.2:p.Arg304ProfsTer6
NM_000088.4:c.910dup MANE Select NP_000079.2:p.Arg304ProfsTer6
Search 100 bp 5'
Search 100 bp 3'