Canonical Allele Identifier: CA645569653
Gene: COL1A1 HGNC NCBI

Linked Data

COSMIC: COSM1324981
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195959_50195976del , CM000679.2:g.50195959_50195976del GRCh38
NC_000017.10:g.48273320_48273337del , CM000679.1:g.48273320_48273337del GRCh37
NC_000017.9:g.45628319_45628336del NCBI36
NG_007400.1:g.10669_10686del , LRG_1:g.10669_10686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1008_1025del MANE Select ENSP00000225964.6:p.Thr337_Pro342del
ENST00000225964.9:c.1008_1025del ENSP00000225964.5:p.Thr337_Pro342del
NM_000088.3:c.1008_1025del , LRG_1t1:c.1008_1025del NP_000079.2:p.Thr337_Pro342del
XM_005257058.3:c.1008_1025del XP_005257115.2:p.Thr337_Pro342del
XM_005257059.3:c.957+343_957+360del XP_005257116.2:n.957+343_957+360del
XM_011524341.1:c.957+343_957+360del XP_011522643.1:n.957+343_957+360del
XM_005257058.4:c.1008_1025del XP_005257115.2:p.Thr337_Pro342del
XM_005257059.4:c.957+343_957+360del XP_005257116.2:n.957+343_957+360del
NM_000088.4:c.1008_1025del MANE Select NP_000079.2:p.Thr337_Pro342del
Search 100 bp 5'
Search 100 bp 3'