Canonical Allele Identifier: CA2263920601

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199250_50199259delinsAGGTCCGGGG , CM000679.2:g.50199250_50199259delinsAGGTCCGGGG	GRCh38
NC_000017.10:g.48276611_48276620delinsAGGTCCGGGG , CM000679.1:g.48276611_48276620delinsAGGTCCGGGG	GRCh37
NC_000017.9:g.45631610_45631619delinsAGGTCCGGGG	NCBI36
NG_007400.1:g.7381_7390delinsCCCCGGACCT , LRG_1:g.7381_7390delinsCCCCGGACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.438_447delinsCCCCGGACCT MANE Select	ENSP00000225964.6:p.Pro146=
ENST00000225964.9:c.438_447delinsCCCCGGACCT	ENSP00000225964.5:p.Pro146=
NM_000088.3:c.438_447delinsCCCCGGACCT , LRG_1t1:c.438_447delinsCCCCGGACCT	NP_000079.2:p.Pro146=
XM_005257058.3:c.438_447delinsCCCCGGACCT	XP_005257115.2:p.Pro146=
XM_005257059.3:c.438_447delinsCCCCGGACCT	XP_005257116.2:p.Pro146=
XM_011524341.1:c.438_447delinsCCCCGGACCT	XP_011522643.1:p.Pro146=
XM_005257058.4:c.438_447delinsCCCCGGACCT	XP_005257115.2:p.Pro146=
XM_005257059.4:c.438_447delinsCCCCGGACCT	XP_005257116.2:p.Pro146=
NM_000088.4:c.438_447delinsCCCCGGACCT MANE Select	NP_000079.2:p.Pro146=