Canonical Allele Identifier: CA2809757581

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197214_50197215del , CM000679.2:g.50197214_50197215del	GRCh38
NC_000017.10:g.48274575_48274576del , CM000679.1:g.48274575_48274576del	GRCh37
NC_000017.9:g.45629574_45629575del	NCBI36
NG_007400.1:g.9425_9426del , LRG_1:g.9425_9426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.715_716del MANE Select	ENSP00000225964.6:p.Gly239SerfsTer4
ENST00000225964.9:c.715_716del	ENSP00000225964.5:p.Gly239SerfsTer4
ENST00000495677.1:n.442_443del
NM_000088.3:c.715_716del , LRG_1t1:c.715_716del	NP_000079.2:p.Gly239SerfsTer4
XM_005257058.3:c.715_716del	XP_005257115.2:p.Gly239SerfsTer4
XM_005257059.3:c.715_716del	XP_005257116.2:p.Gly239SerfsTer4
XM_011524341.1:c.715_716del	XP_011522643.1:p.Gly239SerfsTer4
XM_005257058.4:c.715_716del	XP_005257115.2:p.Gly239SerfsTer4
XM_005257059.4:c.715_716del	XP_005257116.2:p.Gly239SerfsTer4
NM_000088.4:c.715_716del MANE Select	NP_000079.2:p.Gly239SerfsTer4