Canonical Allele Identifier: CA2263917885

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193830_50193832delinsAGT , CM000679.2:g.50193830_50193832delinsAGT	GRCh38
NC_000017.10:g.48271191_48271193delinsAGT , CM000679.1:g.48271191_48271193delinsAGT	GRCh37
NC_000017.9:g.45626190_45626192delinsAGT	NCBI36
NG_007400.1:g.12808_12810delinsACT , LRG_1:g.12808_12810delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+111_1767+113delinsACT MANE Select	ENSP00000225964.6:n.1767+111_1767+113delinsACT
ENST00000225964.9:c.1767+111_1767+113delinsACT	ENSP00000225964.5:n.1767+111_1767+113delinsACT
ENST00000463440.1:n.268_270delinsACT
ENST00000471344.1:n.910_912delinsACT
ENST00000476387.1:n.116+111_116+113delinsACT
NM_000088.3:c.1767+111_1767+113delinsACT , LRG_1t1:c.1767+111_1767+113delinsACT	NP_000079.2:n.1767+111_1767+113delinsACT
XM_005257058.3:c.1767+111_1767+113delinsACT	XP_005257115.2:n.1767+111_1767+113delinsACT
XM_005257059.3:c.958-1139_958-1137delinsACT	XP_005257116.2:n.958-1139_958-1137delinsACT
XM_011524341.1:c.1569+111_1569+113delinsACT	XP_011522643.1:n.1569+111_1569+113delinsACT
XM_005257058.4:c.1767+111_1767+113delinsACT	XP_005257115.2:n.1767+111_1767+113delinsACT
XM_005257059.4:c.958-1139_958-1137delinsACT	XP_005257116.2:n.958-1139_958-1137delinsACT
NM_000088.4:c.1767+111_1767+113delinsACT MANE Select	NP_000079.2:n.1767+111_1767+113delinsACT