Canonical Allele Identifier: CA2263919330

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196590_50196591delinsGA , CM000679.2:g.50196590_50196591delinsGA	GRCh38
NC_000017.10:g.48273951_48273952delinsGA , CM000679.1:g.48273951_48273952delinsGA	GRCh37
NC_000017.9:g.45628950_45628951delinsGA	NCBI36
NG_007400.1:g.10049_10050delinsTC , LRG_1:g.10049_10050delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.858+26_858+27delinsTC MANE Select	ENSP00000225964.6:n.858+26_858+27delinsTC
ENST00000225964.9:c.858+26_858+27delinsTC	ENSP00000225964.5:n.858+26_858+27delinsTC
ENST00000485870.1:n.5_6delinsTC
ENST00000495677.1:n.585+26_585+27delinsTC
NM_000088.3:c.858+26_858+27delinsTC , LRG_1t1:c.858+26_858+27delinsTC	NP_000079.2:n.858+26_858+27delinsTC
XM_005257058.3:c.858+26_858+27delinsTC	XP_005257115.2:n.858+26_858+27delinsTC
XM_005257059.3:c.858+26_858+27delinsTC	XP_005257116.2:n.858+26_858+27delinsTC
XM_011524341.1:c.858+26_858+27delinsTC	XP_011522643.1:n.858+26_858+27delinsTC
XM_005257058.4:c.858+26_858+27delinsTC	XP_005257115.2:n.858+26_858+27delinsTC
XM_005257059.4:c.858+26_858+27delinsTC	XP_005257116.2:n.858+26_858+27delinsTC
NM_000088.4:c.858+26_858+27delinsTC MANE Select	NP_000079.2:n.858+26_858+27delinsTC