Canonical Allele Identifier: CA2263913842

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185778_50185779delinsCG , CM000679.2:g.50185778_50185779delinsCG	GRCh38
NC_000017.10:g.48263139_48263140delinsCG , CM000679.1:g.48263139_48263140delinsCG	GRCh37
NC_000017.9:g.45618138_45618139delinsCG	NCBI36
NG_007400.1:g.20861_20862delinsCG , LRG_1:g.20861_20862delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.4247_4248delinsCG MANE Select	ENSP00000225964.6:p.Thr1416=
ENST00000225964.9:c.4247_4248delinsCG	ENSP00000225964.5:p.Thr1416=
NM_000088.3:c.4247_4248delinsCG , LRG_1t1:c.4247_4248delinsCG	NP_000079.2:p.Thr1416=
XM_005257058.3:c.3977_3978delinsCG	XP_005257115.2:p.Thr1326=
XM_005257059.3:c.3329_3330delinsCG	XP_005257116.2:p.Thr1110=
XM_011524341.1:c.4049_4050delinsCG	XP_011522643.1:p.Thr1350=
XM_005257058.4:c.3977_3978delinsCG	XP_005257115.2:p.Thr1326=
XM_005257059.4:c.3329_3330delinsCG	XP_005257116.2:p.Thr1110=
NM_000088.4:c.4247_4248delinsCG MANE Select	NP_000079.2:p.Thr1416=