Canonical Allele Identifier: CA2263917999

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194083_50194084delinsGA , CM000679.2:g.50194083_50194084delinsGA	GRCh38
NC_000017.10:g.48271444_48271445delinsGA , CM000679.1:g.48271444_48271445delinsGA	GRCh37
NC_000017.9:g.45626443_45626444delinsGA	NCBI36
NG_007400.1:g.12556_12557delinsTC , LRG_1:g.12556_12557delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1669-43_1669-42delinsTC MANE Select	ENSP00000225964.6:n.1669-43_1669-42delinsTC
ENST00000225964.9:c.1669-43_1669-42delinsTC	ENSP00000225964.5:n.1669-43_1669-42delinsTC
ENST00000463440.1:n.59-43_59-42delinsTC
ENST00000471344.1:n.658_659delinsTC
NM_000088.3:c.1669-43_1669-42delinsTC , LRG_1t1:c.1669-43_1669-42delinsTC	NP_000079.2:n.1669-43_1669-42delinsTC
XM_005257058.3:c.1669-43_1669-42delinsTC	XP_005257115.2:n.1669-43_1669-42delinsTC
XM_005257059.3:c.958-1391_958-1390delinsTC	XP_005257116.2:n.958-1391_958-1390delinsTC
XM_011524341.1:c.1471-43_1471-42delinsTC	XP_011522643.1:n.1471-43_1471-42delinsTC
XM_005257058.4:c.1669-43_1669-42delinsTC	XP_005257115.2:n.1669-43_1669-42delinsTC
XM_005257059.4:c.958-1391_958-1390delinsTC	XP_005257116.2:n.958-1391_958-1390delinsTC
NM_000088.4:c.1669-43_1669-42delinsTC MANE Select	NP_000079.2:n.1669-43_1669-42delinsTC