Canonical Allele Identifier: CA2263913681

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185510_50185511delinsAG , CM000679.2:g.50185510_50185511delinsAG	GRCh38
NC_000017.10:g.48262871_48262872delinsAG , CM000679.1:g.48262871_48262872delinsAG	GRCh37
NC_000017.9:g.45617870_45617871delinsAG	NCBI36
NG_007400.1:g.21129_21130delinsCT , LRG_1:g.21129_21130delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4386_4387delinsCT MANE Select	ENSP00000225964.6:p.Cys1462=
ENST00000225964.9:c.4386_4387delinsCT	ENSP00000225964.5:p.Cys1462=
NM_000088.3:c.4386_4387delinsCT , LRG_1t1:c.4386_4387delinsCT	NP_000079.2:p.Cys1462=
XM_005257058.3:c.4116_4117delinsCT	XP_005257115.2:p.Cys1372=
XM_005257059.3:c.3468_3469delinsCT	XP_005257116.2:p.Cys1156=
XM_011524341.1:c.4188_4189delinsCT	XP_011522643.1:p.Cys1396=
XM_005257058.4:c.4116_4117delinsCT	XP_005257115.2:p.Cys1372=
XM_005257059.4:c.3468_3469delinsCT	XP_005257116.2:p.Cys1156=
NM_000088.4:c.4386_4387delinsCT MANE Select	NP_000079.2:p.Cys1462=