Canonical Allele Identifier: CA260296
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50190328del
GRCh37 chr17:g.48267689del
gnomAD v4:
chr17-50190327-AG-A
Joint Max Group AF 0.00000366 (NFE)
Exomes Max Group AF 0.00000389 (NFE)
ClinVar RCV:
RCV000029567
RCV000706566
ClinVar Variation:
35912
dbSNP:
193922149
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190333del , CM000679.2:g.50190333del GRCh38
NC_000017.10:g.48267694del , CM000679.1:g.48267694del GRCh37
NC_000017.9:g.45622693del NCBI36
NG_007400.1:g.16312del , LRG_1:g.16312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2450del MANE Select ENSP00000225964.6:p.Pro817LeufsTer?
ENST00000225964.9:c.2450del ENSP00000225964.5:p.Pro817LeufsTer?
ENST00000494334.1:n.377del
NM_000088.3:c.2450del , LRG_1t1:c.2450del NP_000079.2:p.Pro817LeufsTer?
XM_005257058.3:c.2450del XP_005257115.2:p.Pro817LeufsTer?
XM_005257059.3:c.1532del XP_005257116.2:p.Pro511LeufsTer?
XM_011524341.1:c.2252del XP_011522643.1:p.Pro751LeufsTer?
XM_005257058.4:c.2450del XP_005257115.2:p.Pro817LeufsTer?
XM_005257059.4:c.1532del XP_005257116.2:p.Pro511LeufsTer?
NM_000088.4:c.2450del MANE Select NP_000079.2:p.Pro817LeufsTer?
Search 100 bp 5'
Search 100 bp 3'