Canonical Allele Identifier: CA16042995
Gene: COL1A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372752
ClinVar RCV Id: RCV000414247
dbSNP Id: rs1057517965

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188596_50188604dup , CM000679.2:g.50188596_50188604dup GRCh38
NC_000017.9:g.45620956_45620964dup NCBI36
NC_000017.10:g.48265957_48265965dup , CM000679.1:g.48265957_48265965dup GRCh37
NG_007400.1:g.18053_18061dup , LRG_1:g.18053_18061dup

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.9:c.3150_3158dup ENSP00000225964.5:p.Ala1053_Pro1054insPro...
ENST00000511732.1:n.94_102dup
NM_000088.3:c.3150_3158dup , LRG_1t1:c.3150_3158dup NP_000079.2:p.Ala1053_Pro1054insProGlyAla...
XM_005257058.3:c.2880_2888dup XP_005257115.2:p.Ala963_Pro964insProGlyAl...
XM_005257059.3:c.2232_2240dup XP_005257116.2:p.Ala747_Pro748insProGlyAl...
XM_011524341.1:c.2952_2960dup XP_011522643.1:p.Ala987_Pro988insProGlyAl...