Canonical Allele Identifier: CA16620476
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423281
ClinVar RCV Id: RCV000482067
dbSNP Id: rs1064796341

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194163_50194171del , CM000679.2:g.50194163_50194171del GRCh38
NC_000017.10:g.48271524_48271532del , CM000679.1:g.48271524_48271532del GRCh37
NC_000017.9:g.45626523_45626531del NCBI36
NG_007400.1:g.12477_12485del , LRG_1:g.12477_12485del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1635_1643del MANE Select ENSP00000225964.6:p.Ser546_Gly548del
ENST00000225964.9:c.1635_1643del ENSP00000225964.5:p.Ser546_Gly548del
ENST00000463440.1:n.25_33del
ENST00000471344.1:n.579_587del
NM_000088.3:c.1635_1643del , LRG_1t1:c.1635_1643del NP_000079.2:p.Ser546_Gly548del
XM_005257058.3:c.1635_1643del XP_005257115.2:p.Ser546_Gly548del
XM_005257059.3:c.958-1470_958-1462del XP_005257116.2:n.958-1470_958-1462del
XM_011524341.1:c.1437_1445del XP_011522643.1:p.Ser480_Gly482del
XM_005257058.4:c.1635_1643del XP_005257115.2:p.Ser546_Gly548del
XM_005257059.4:c.958-1470_958-1462del XP_005257116.2:n.958-1470_958-1462del
NM_000088.4:c.1635_1643del MANE Select NP_000079.2:p.Ser546_Gly548del