Canonical Allele Identifier: CA915950624
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657422
ClinVar RCV Id: RCV000814019
dbSNP Id: rs1114167407
gnomAD v4: 17-50199238-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199243del , CM000679.2:g.50199243del GRCh38
NC_000017.10:g.48276604del , CM000679.1:g.48276604del GRCh37
NC_000017.9:g.45631603del NCBI36
NG_007400.1:g.7401del , LRG_1:g.7401del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.458del MANE Select ENSP00000225964.6:p.Pro153LeufsTer?
ENST00000225964.9:c.458del ENSP00000225964.5:p.Pro153LeufsTer?
NM_000088.3:c.458del , LRG_1t1:c.458del NP_000079.2:p.Pro153LeufsTer?
XM_005257058.3:c.458del XP_005257115.2:p.Pro153LeufsTer?
XM_005257059.3:c.458del XP_005257116.2:p.Pro153LeufsTer?
XM_011524341.1:c.458del XP_011522643.1:p.Pro153LeufsTer?
XM_005257058.4:c.458del XP_005257115.2:p.Pro153LeufsTer?
XM_005257059.4:c.458del XP_005257116.2:p.Pro153LeufsTer?
NM_000088.4:c.458del MANE Select NP_000079.2:p.Pro153LeufsTer?
Search 100 bp 5'
Search 100 bp 3'