Canonical Allele Identifier: CA260301
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35916
ClinVar RCV Id: RCV000029571 RCV000518260 RCV000804992
dbSNP Id: rs193922151
MyVariant Identifiers: chr17:g.48266882del (hg19) chr17:g.50189521del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50189521del , CM000679.2:g.50189521del GRCh38
NC_000017.10:g.48266882del , CM000679.1:g.48266882del GRCh37
NC_000017.9:g.45621881del NCBI36
NG_007400.1:g.17119del , LRG_1:g.17119del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2685del MANE Select ENSP00000225964.6:p.Gly896AlafsTer?
ENST00000225964.9:c.2685del ENSP00000225964.5:p.Gly896AlafsTer?
NM_000088.3:c.2685del , LRG_1t1:c.2685del NP_000079.2:p.Gly896AlafsTer?
XM_005257058.3:c.2667+158del XP_005257115.2:n.2667+158del
XM_005257059.3:c.1767del XP_005257116.2:p.Gly590AlafsTer?
XM_011524341.1:c.2487del XP_011522643.1:p.Gly830AlafsTer?
XM_005257058.4:c.2667+158del XP_005257115.2:n.2667+158del
XM_005257059.4:c.1767del XP_005257116.2:p.Gly590AlafsTer?
NM_000088.4:c.2685del MANE Select NP_000079.2:p.Gly896AlafsTer?
Search 100 bp 5'
Search 100 bp 3'