Canonical Allele Identifier: CA915950610

Gene: COL1A1

Linked Data

• dbSNP Id: rs1598293885

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192806_50192807delinsC , CM000679.2:g.50192806_50192807delinsC	GRCh38
NC_000017.10:g.48270167_48270168delinsC , CM000679.1:g.48270167_48270168delinsC	GRCh37
NC_000017.9:g.45625166_45625167delinsC	NCBI36
NG_007400.1:g.13833_13834delinsG , LRG_1:g.13833_13834delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1865_1866delinsG MANE Select	ENSP00000225964.6:p.Pro622ArgfsTer?
ENST00000225964.9:c.1865_1866delinsG	ENSP00000225964.5:p.Pro622ArgfsTer?
ENST00000476387.1:n.214_215delinsG
NM_000088.3:c.1865_1866delinsG , LRG_1t1:c.1865_1866delinsG	NP_000079.2:p.Pro622ArgfsTer?
XM_005257058.3:c.1865_1866delinsG	XP_005257115.2:p.Pro622ArgfsTer?
XM_005257059.3:c.958-114_958-113delinsG	XP_005257116.2:n.958-114_958-113delinsG
XM_011524341.1:c.1667_1668delinsG	XP_011522643.1:p.Pro556ArgfsTer?
XM_005257058.4:c.1865_1866delinsG	XP_005257115.2:p.Pro622ArgfsTer?
XM_005257059.4:c.958-114_958-113delinsG	XP_005257116.2:n.958-114_958-113delinsG
NM_000088.4:c.1865_1866delinsG MANE Select	NP_000079.2:p.Pro622ArgfsTer?