Canonical Allele Identifier: CA2263917955

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193989_50193997delinsCGGGCACCA , CM000679.2:g.50193989_50193997delinsCGGGCACCA	GRCh38
NC_000017.10:g.48271350_48271358delinsCGGGCACCA , CM000679.1:g.48271350_48271358delinsCGGGCACCA	GRCh37
NC_000017.9:g.45626349_45626357delinsCGGGCACCA	NCBI36
NG_007400.1:g.12643_12651delinsTGGTGCCCG , LRG_1:g.12643_12651delinsTGGTGCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1713_1721delinsTGGTGCCCG MANE Select	ENSP00000225964.6:p.Pro571=
ENST00000225964.9:c.1713_1721delinsTGGTGCCCG	ENSP00000225964.5:p.Pro571=
ENST00000463440.1:n.103_111delinsTGGTGCCCG
ENST00000471344.1:n.745_753delinsTGGTGCCCG
ENST00000476387.1:n.62_70delinsTGGTGCCCG
NM_000088.3:c.1713_1721delinsTGGTGCCCG , LRG_1t1:c.1713_1721delinsTGGTGCCCG	NP_000079.2:p.Pro571=
XM_005257058.3:c.1713_1721delinsTGGTGCCCG	XP_005257115.2:p.Pro571=
XM_005257059.3:c.958-1304_958-1296delinsTGGTGCCCG	XP_005257116.2:n.958-1304_958-1296delinsTGGTGCCCG
XM_011524341.1:c.1515_1523delinsTGGTGCCCG	XP_011522643.1:p.Pro505=
XM_005257058.4:c.1713_1721delinsTGGTGCCCG	XP_005257115.2:p.Pro571=
XM_005257059.4:c.958-1304_958-1296delinsTGGTGCCCG	XP_005257116.2:n.958-1304_958-1296delinsTGGTGCCCG
NM_000088.4:c.1713_1721delinsTGGTGCCCG MANE Select	NP_000079.2:p.Pro571=