Canonical Allele Identifier: CA2263920341

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198581_50198582delinsGA , CM000679.2:g.50198581_50198582delinsGA	GRCh38
NC_000017.10:g.48275942_48275943delinsGA , CM000679.1:g.48275942_48275943delinsGA	GRCh37
NC_000017.9:g.45630941_45630942delinsGA	NCBI36
NG_007400.1:g.8058_8059delinsTC , LRG_1:g.8058_8059delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-78_472-77delinsTC MANE Select	ENSP00000225964.6:n.472-78_472-77delinsTC
ENST00000225964.9:c.472-78_472-77delinsTC	ENSP00000225964.5:n.472-78_472-77delinsTC
ENST00000495677.1:n.121_122delinsTC
NM_000088.3:c.472-78_472-77delinsTC , LRG_1t1:c.472-78_472-77delinsTC	NP_000079.2:n.472-78_472-77delinsTC
XM_005257058.3:c.472-78_472-77delinsTC	XP_005257115.2:n.472-78_472-77delinsTC
XM_005257059.3:c.472-78_472-77delinsTC	XP_005257116.2:n.472-78_472-77delinsTC
XM_011524341.1:c.472-78_472-77delinsTC	XP_011522643.1:n.472-78_472-77delinsTC
XM_005257058.4:c.472-78_472-77delinsTC	XP_005257115.2:n.472-78_472-77delinsTC
XM_005257059.4:c.472-78_472-77delinsTC	XP_005257116.2:n.472-78_472-77delinsTC
NM_000088.4:c.472-78_472-77delinsTC MANE Select	NP_000079.2:n.472-78_472-77delinsTC