Canonical Allele Identifier: CA16043049
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372753
dbSNP Id: rs74315111

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188596_50188604del , CM000679.2:g.50188596_50188604del GRCh38
NC_000017.10:g.48265957_48265965del , CM000679.1:g.48265957_48265965del GRCh37
NC_000017.9:g.45620956_45620964del NCBI36
NG_007400.1:g.18053_18061del , LRG_1:g.18053_18061del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.3150_3158del MANE Select ENSP00000225964.6:p.Pro1051_Ala1053del
ENST00000225964.9:c.3150_3158del ENSP00000225964.5:p.Pro1051_Ala1053del
ENST00000511732.1:n.94_102del
NM_000088.3:c.3150_3158del , LRG_1t1:c.3150_3158del NP_000079.2:p.Pro1051_Ala1053del
XM_005257058.3:c.2880_2888del XP_005257115.2:p.Pro961_Ala963del
XM_005257059.3:c.2232_2240del XP_005257116.2:p.Pro745_Ala747del
XM_011524341.1:c.2952_2960del XP_011522643.1:p.Pro985_Ala987del
XM_005257058.4:c.2880_2888del XP_005257115.2:p.Pro961_Ala963del
XM_005257059.4:c.2232_2240del XP_005257116.2:p.Pro745_Ala747del
NM_000088.4:c.3150_3158del MANE Select NP_000079.2:p.Pro1051_Ala1053del