Canonical Allele Identifier: CA260295
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35911
ClinVar RCV Id: RCV000029566
dbSNP Id: rs193922148
MyVariant Identifiers: chr17:g.48267721del (hg19) chr17:g.50190360del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190360del , CM000679.2:g.50190360del GRCh38
NC_000017.10:g.48267721del , CM000679.1:g.48267721del GRCh37
NC_000017.9:g.45622720del NCBI36
NG_007400.1:g.16280del , LRG_1:g.16280del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2418del MANE Select ENSP00000225964.6:p.Gly809AlafsTer?
ENST00000225964.9:c.2418del ENSP00000225964.5:p.Gly809AlafsTer?
ENST00000494334.1:n.345del
NM_000088.3:c.2418del , LRG_1t1:c.2418del NP_000079.2:p.Gly809AlafsTer?
XM_005257058.3:c.2418del XP_005257115.2:p.Gly809AlafsTer?
XM_005257059.3:c.1500del XP_005257116.2:p.Gly503AlafsTer?
XM_011524341.1:c.2220del XP_011522643.1:p.Gly743AlafsTer?
XM_005257058.4:c.2418del XP_005257115.2:p.Gly809AlafsTer?
XM_005257059.4:c.1500del XP_005257116.2:p.Gly503AlafsTer?
NM_000088.4:c.2418del MANE Select NP_000079.2:p.Gly809AlafsTer?
Search 100 bp 5'
Search 100 bp 3'