Canonical Allele Identifier: CA2263913880

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185843_50185846delinsCGTT , CM000679.2:g.50185843_50185846delinsCGTT	GRCh38
NC_000017.10:g.48263204_48263207delinsCGTT , CM000679.1:g.48263204_48263207delinsCGTT	GRCh37
NC_000017.9:g.45618203_45618206delinsCGTT	NCBI36
NG_007400.1:g.20794_20797delinsAACG , LRG_1:g.20794_20797delinsAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4180_4183delinsAACG MANE Select	ENSP00000225964.6:p.Asn1394=
ENST00000225964.9:c.4180_4183delinsAACG	ENSP00000225964.5:p.Asn1394=
NM_000088.3:c.4180_4183delinsAACG , LRG_1t1:c.4180_4183delinsAACG	NP_000079.2:p.Asn1394=
XM_005257058.3:c.3910_3913delinsAACG	XP_005257115.2:p.Asn1304=
XM_005257059.3:c.3262_3265delinsAACG	XP_005257116.2:p.Asn1088=
XM_011524341.1:c.3982_3985delinsAACG	XP_011522643.1:p.Asn1328=
XM_005257058.4:c.3910_3913delinsAACG	XP_005257115.2:p.Asn1304=
XM_005257059.4:c.3262_3265delinsAACG	XP_005257116.2:p.Asn1088=
NM_000088.4:c.4180_4183delinsAACG MANE Select	NP_000079.2:p.Asn1394=