Canonical Allele Identifier: CA2576317578

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194067_50194069del , CM000679.2:g.50194067_50194069del	GRCh38
NC_000017.10:g.48271428_48271430del , CM000679.1:g.48271428_48271430del	GRCh37
NC_000017.9:g.45626427_45626429del	NCBI36
NG_007400.1:g.12576_12578del , LRG_1:g.12576_12578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1669-23_1669-21del MANE Select	ENSP00000225964.6:n.1669-23_1669-21del
ENST00000225964.9:c.1669-23_1669-21del	ENSP00000225964.5:n.1669-23_1669-21del
ENST00000463440.1:n.59-23_59-21del
ENST00000471344.1:n.678_680del
NM_000088.3:c.1669-23_1669-21del , LRG_1t1:c.1669-23_1669-21del	NP_000079.2:n.1669-23_1669-21del
XM_005257058.3:c.1669-23_1669-21del	XP_005257115.2:n.1669-23_1669-21del
XM_005257059.3:c.958-1371_958-1369del	XP_005257116.2:n.958-1371_958-1369del
XM_011524341.1:c.1471-23_1471-21del	XP_011522643.1:n.1471-23_1471-21del
XM_005257058.4:c.1669-23_1669-21del	XP_005257115.2:n.1669-23_1669-21del
XM_005257059.4:c.958-1371_958-1369del	XP_005257116.2:n.958-1371_958-1369del
NM_000088.4:c.1669-23_1669-21del MANE Select	NP_000079.2:n.1669-23_1669-21del