Canonical Allele Identifier: CA2263913574

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185359_50185360delinsGA , CM000679.2:g.50185359_50185360delinsGA	GRCh38
NC_000017.10:g.48262720_48262721delinsGA , CM000679.1:g.48262720_48262721delinsGA	GRCh37
NC_000017.9:g.45617719_45617720delinsGA	NCBI36
NG_007400.1:g.21280_21281delinsTC , LRG_1:g.21280_21281delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*142_*143delinsTC MANE Select	ENSP00000225964.6:n.*142_*143delinsTC
ENST00000225964.9:c.*142_*143delinsTC	ENSP00000225964.5:n.*142_*143delinsTC
NM_000088.3:c.*142_*143delinsTC , LRG_1t1:c.*142_*143delinsTC	NP_000079.2:n.*142_*143delinsTC
XM_005257058.3:c.*142_*143delinsTC	XP_005257115.2:n.*142_*143delinsTC
XM_005257059.3:c.*142_*143delinsTC	XP_005257116.2:n.*142_*143delinsTC
XM_011524341.1:c.*142_*143delinsTC	XP_011522643.1:n.*142_*143delinsTC
XM_005257058.4:c.*142_*143delinsTC	XP_005257115.2:n.*142_*143delinsTC
XM_005257059.4:c.*142_*143delinsTC	XP_005257116.2:n.*142_*143delinsTC
NM_000088.4:c.*142_*143delinsTC MANE Select	NP_000079.2:n.*142_*143delinsTC