Canonical Allele Identifier: CA1104605123
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1791752750
gnomAD v3: 7-94404479-GTT-G
gnomAD v4: 7-94404479-GTT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404480_94404481del , CM000669.2:g.94404480_94404481del GRCh38
NC_000007.13:g.94033792_94033793del , CM000669.1:g.94033792_94033793del GRCh37
NC_000007.12:g.93871728_93871729del NCBI36
NG_007405.1:g.14920_14921del , LRG_2:g.14920_14921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-76_280-75del MANE Select ENSP00000297268.6:n.280-76_280-75del
ENST00000297268.10:c.280-76_280-75del ENSP00000297268.6:n.280-76_280-75del
ENST00000620463.1:c.274-76_274-75del ENSP00000477719.1:n.274-76_274-75del
NM_000089.3:c.280-76_280-75del , LRG_2t1:c.280-76_280-75del NP_000080.2:n.280-76_280-75del
NM_000089.4:c.280-76_280-75del MANE Select NP_000080.2:n.280-76_280-75del
Search 100 bp 5'
Search 100 bp 3'