Canonical Allele Identifier: CA916081210
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 838007
ClinVar RCV Id: RCV001039464
dbSNP Id: rs1907617224
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196641_50196642delinsAA , CM000679.2:g.50196641_50196642delinsAA GRCh38
NC_000017.10:g.48274002_48274003delinsAA , CM000679.1:g.48274002_48274003delinsAA GRCh37
NC_000017.9:g.45629001_45629002delinsAA NCBI36
NG_007400.1:g.9998_9999delinsTT , LRG_1:g.9998_9999delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.833_834delinsTT MANE Select ENSP00000225964.6:p.Gly278Val
ENST00000225964.9:c.833_834delinsTT ENSP00000225964.5:p.Gly278Val
ENST00000495677.1:n.560_561delinsTT
NM_000088.3:c.833_834delinsTT , LRG_1t1:c.833_834delinsTT NP_000079.2:p.Gly278Val
XM_005257058.3:c.833_834delinsTT XP_005257115.2:p.Gly278Val
XM_005257059.3:c.833_834delinsTT XP_005257116.2:p.Gly278Val
XM_011524341.1:c.833_834delinsTT XP_011522643.1:p.Gly278Val
XM_005257058.4:c.833_834delinsTT XP_005257115.2:p.Gly278Val
XM_005257059.4:c.833_834delinsTT XP_005257116.2:p.Gly278Val
NM_000088.4:c.833_834delinsTT MANE Select NP_000079.2:p.Gly278Val
Search 100 bp 5'
Search 100 bp 3'