Canonical Allele Identifier: CA2739291018

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194042del , CM000679.2:g.50194042del	GRCh38
NC_000017.10:g.48271403del , CM000679.1:g.48271403del	GRCh37
NC_000017.9:g.45626402del	NCBI36
NG_007400.1:g.12600del , LRG_1:g.12600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1670del
ENST00000225964.9:c.1670del
ENST00000463440.1:n.60del
ENST00000471344.1:n.702del
ENST00000476387.1:n.19del
NM_000088.3:c.1670del , LRG_1t1:c.1670del
XM_005257058.3:c.1670del
XM_005257059.3:c.958-1347del	XP_005257116.2:n.958-1347del
XM_011524341.1:c.1472del
XM_005257058.4:c.1670del
XM_005257059.4:c.958-1347del	XP_005257116.2:n.958-1347del
NM_000088.4:c.1670del