Canonical Allele Identifier: CA2523920597
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195948_50195949insTC , CM000679.2:g.50195948_50195949insTC GRCh38
NC_000017.10:g.48273309_48273310insTC , CM000679.1:g.48273309_48273310insTC GRCh37
NC_000017.9:g.45628308_45628309insTC NCBI36
NG_007400.1:g.10692_10693insAG , LRG_1:g.10692_10693insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1031_1032insAG MANE Select ENSP00000225964.6:p.Phe345AlafsTer?
ENST00000225964.9:c.1031_1032insAG ENSP00000225964.5:p.Phe345AlafsTer?
NM_000088.3:c.1031_1032insAG , LRG_1t1:c.1031_1032insAG NP_000079.2:p.Phe345AlafsTer?
XM_005257058.3:c.1031_1032insAG XP_005257115.2:p.Phe345AlafsTer?
XM_005257059.3:c.957+366_957+367insAG XP_005257116.2:n.957+366_957+367insAG
XM_011524341.1:c.957+366_957+367insAG XP_011522643.1:n.957+366_957+367insAG
XM_005257058.4:c.1031_1032insAG XP_005257115.2:p.Phe345AlafsTer?
XM_005257059.4:c.957+366_957+367insAG XP_005257116.2:n.957+366_957+367insAG
NM_000088.4:c.1031_1032insAG MANE Select NP_000079.2:p.Phe345AlafsTer?
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