Canonical Allele Identifier: CA626486271
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 567887
ClinVar RCV Id: RCV000688087 RCV001584559 RCV002331337
dbSNP Id: rs769867566
gnomAD v2: 17-48276611-AGGTCCGGGG-A
gnomAD v3: 17-50199250-AGGTCCGGGG-A
gnomAD v4: 17-50199250-AGGTCCGGGG-A
MyVariant Identifiers: chr17:g.48276612_48276620del (hg19) chr17:g.50199251_50199259del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199268_50199276del , CM000679.2:g.50199268_50199276del GRCh38
NC_000017.10:g.48276629_48276637del , CM000679.1:g.48276629_48276637del GRCh37
NC_000017.9:g.45631628_45631636del NCBI36
NG_007400.1:g.7381_7389del , LRG_1:g.7381_7389del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.438_446del MANE Select ENSP00000225964.6:p.Pro147_Pro149del
ENST00000225964.9:c.438_446del ENSP00000225964.5:p.Pro147_Pro149del
NM_000088.3:c.438_446del , LRG_1t1:c.438_446del NP_000079.2:p.Pro147_Pro149del
XM_005257058.3:c.438_446del XP_005257115.2:p.Pro147_Pro149del
XM_005257059.3:c.438_446del XP_005257116.2:p.Pro147_Pro149del
XM_011524341.1:c.438_446del XP_011522643.1:p.Pro147_Pro149del
XM_005257058.4:c.438_446del XP_005257115.2:p.Pro147_Pro149del
XM_005257059.4:c.438_446del XP_005257116.2:p.Pro147_Pro149del
NM_000088.4:c.438_446del MANE Select NP_000079.2:p.Pro147_Pro149del
Search 100 bp 5'
Search 100 bp 3'