Canonical Allele Identifier: CA2809757587

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197229_50197233del , CM000679.2:g.50197229_50197233del	GRCh38
NC_000017.10:g.48274590_48274594del , CM000679.1:g.48274590_48274594del	GRCh37
NC_000017.9:g.45629589_45629593del	NCBI36
NG_007400.1:g.9407_9411del , LRG_1:g.9407_9411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.697_701del MANE Select	ENSP00000225964.6:p.Gly233SerfsTer9
ENST00000225964.9:c.697_701del	ENSP00000225964.5:p.Gly233SerfsTer9
ENST00000495677.1:n.424_428del
NM_000088.3:c.697_701del , LRG_1t1:c.697_701del	NP_000079.2:p.Gly233SerfsTer9
XM_005257058.3:c.697_701del	XP_005257115.2:p.Gly233SerfsTer9
XM_005257059.3:c.697_701del	XP_005257116.2:p.Gly233SerfsTer9
XM_011524341.1:c.697_701del	XP_011522643.1:p.Gly233SerfsTer9
XM_005257058.4:c.697_701del	XP_005257115.2:p.Gly233SerfsTer9
XM_005257059.4:c.697_701del	XP_005257116.2:p.Gly233SerfsTer9
NM_000088.4:c.697_701del MANE Select	NP_000079.2:p.Gly233SerfsTer9