Canonical Allele Identifier: CA2499306899
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1676228
ClinVar RCV Id: RCV002221390
dbSNP Id: rs2144581910

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196639_50196640delinsGGACCAGCAGGA , CM000679.2:g.50196639_50196640delinsGGACCAGCAGGA GRCh38
NC_000017.10:g.48274000_48274001delinsGGACCAGCAGGA , CM000679.1:g.48274000_48274001delinsGGACCAGCAGGA GRCh37
NC_000017.9:g.45628999_45629000delinsGGACCAGCAGGA NCBI36
NG_007400.1:g.10000_10001delinsTCCTGCTGGTCC , LRG_1:g.10000_10001delinsTCCTGCTGGTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.835_836delinsTCCTGCTGGTCC MANE Select ENSP00000225964.6:p.Asp279SerfsTer11
ENST00000225964.9:c.835_836delinsTCCTGCTGGTCC ENSP00000225964.5:p.Asp279SerfsTer11
ENST00000495677.1:n.562_563delinsTCCTGCTGGTCC
NM_000088.3:c.835_836delinsTCCTGCTGGTCC , LRG_1t1:c.835_836delinsTCCTGCTGGTCC NP_000079.2:p.Asp279SerfsTer11
XM_005257058.3:c.835_836delinsTCCTGCTGGTCC XP_005257115.2:p.Asp279SerfsTer11
XM_005257059.3:c.835_836delinsTCCTGCTGGTCC XP_005257116.2:p.Asp279SerfsTer11
XM_011524341.1:c.835_836delinsTCCTGCTGGTCC XP_011522643.1:p.Asp279SerfsTer11
XM_005257058.4:c.835_836delinsTCCTGCTGGTCC XP_005257115.2:p.Asp279SerfsTer11
XM_005257059.4:c.835_836delinsTCCTGCTGGTCC XP_005257116.2:p.Asp279SerfsTer11
NM_000088.4:c.835_836delinsTCCTGCTGGTCC MANE Select NP_000079.2:p.Asp279SerfsTer11