Canonical Allele Identifier: CA2263920291

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198469_50198472delinsCTCA , CM000679.2:g.50198469_50198472delinsCTCA	GRCh38
NC_000017.10:g.48275830_48275833delinsCTCA , CM000679.1:g.48275830_48275833delinsCTCA	GRCh37
NC_000017.9:g.45630829_45630832delinsCTCA	NCBI36
NG_007400.1:g.8168_8171delinsTGAG , LRG_1:g.8168_8171delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.504_507delinsTGAG MANE Select	ENSP00000225964.6:p.Asp168=
ENST00000225964.9:c.504_507delinsTGAG	ENSP00000225964.5:p.Asp168=
ENST00000495677.1:n.231_234delinsTGAG
NM_000088.3:c.504_507delinsTGAG , LRG_1t1:c.504_507delinsTGAG	NP_000079.2:p.Asp168=
XM_005257058.3:c.504_507delinsTGAG	XP_005257115.2:p.Asp168=
XM_005257059.3:c.504_507delinsTGAG	XP_005257116.2:p.Asp168=
XM_011524341.1:c.504_507delinsTGAG	XP_011522643.1:p.Asp168=
XM_005257058.4:c.504_507delinsTGAG	XP_005257115.2:p.Asp168=
XM_005257059.4:c.504_507delinsTGAG	XP_005257116.2:p.Asp168=
NM_000088.4:c.504_507delinsTGAG MANE Select	NP_000079.2:p.Asp168=