Canonical Allele Identifier: CA2695226675

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195657del , CM000679.2:g.50195657del	GRCh38
NC_000017.10:g.48273018del , CM000679.1:g.48273018del	GRCh37
NC_000017.9:g.45628017del	NCBI36
NG_007400.1:g.10983del , LRG_1:g.10983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1065del MANE Select	ENSP00000225964.6:p.Gly356ValfsTer?
ENST00000225964.9:c.1065del	ENSP00000225964.5:p.Gly356ValfsTer?
ENST00000471344.1:n.9del
NM_000088.3:c.1065del , LRG_1t1:c.1065del	NP_000079.2:p.Gly356ValfsTer?
XM_005257058.3:c.1065del	XP_005257115.2:p.Gly356ValfsTer?
XM_005257059.3:c.957+657del	XP_005257116.2:n.957+657del
XM_011524341.1:c.958-179del	XP_011522643.1:n.958-179del
XM_005257058.4:c.1065del	XP_005257115.2:p.Gly356ValfsTer?
XM_005257059.4:c.957+657del	XP_005257116.2:n.957+657del
NM_000088.4:c.1065del MANE Select	NP_000079.2:p.Gly356ValfsTer?