Canonical Allele Identifier: CA2263918333

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194697_50194698delinsGA , CM000679.2:g.50194697_50194698delinsGA	GRCh38
NC_000017.10:g.48272058_48272059delinsGA , CM000679.1:g.48272058_48272059delinsGA	GRCh37
NC_000017.9:g.45627057_45627058delinsGA	NCBI36
NG_007400.1:g.11942_11943delinsTC , LRG_1:g.11942_11943delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+23_1461+24delinsTC MANE Select	ENSP00000225964.6:n.1461+23_1461+24delinsTC
ENST00000225964.9:c.1461+23_1461+24delinsTC	ENSP00000225964.5:n.1461+23_1461+24delinsTC
ENST00000471344.1:n.405+23_405+24delinsTC
NM_000088.3:c.1461+23_1461+24delinsTC , LRG_1t1:c.1461+23_1461+24delinsTC	NP_000079.2:n.1461+23_1461+24delinsTC
XM_005257058.3:c.1461+23_1461+24delinsTC	XP_005257115.2:n.1461+23_1461+24delinsTC
XM_005257059.3:c.957+1616_957+1617delinsTC	XP_005257116.2:n.957+1616_957+1617delinsTC
XM_011524341.1:c.1263+23_1263+24delinsTC	XP_011522643.1:n.1263+23_1263+24delinsTC
XM_005257058.4:c.1461+23_1461+24delinsTC	XP_005257115.2:n.1461+23_1461+24delinsTC
XM_005257059.4:c.957+1616_957+1617delinsTC	XP_005257116.2:n.957+1616_957+1617delinsTC
NM_000088.4:c.1461+23_1461+24delinsTC MANE Select	NP_000079.2:n.1461+23_1461+24delinsTC