Canonical Allele Identifier: CA2809756866

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193643_50193645del , CM000679.2:g.50193643_50193645del	GRCh38
NC_000017.10:g.48271004_48271006del , CM000679.1:g.48271004_48271006del	GRCh37
NC_000017.9:g.45626003_45626005del	NCBI36
NG_007400.1:g.12996_12998del , LRG_1:g.12996_12998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+299_1767+301del MANE Select	ENSP00000225964.6:n.1767+299_1767+301del
ENST00000225964.9:c.1767+299_1767+301del	ENSP00000225964.5:n.1767+299_1767+301del
ENST00000463440.1:n.456_458del
ENST00000471344.1:n.1098_1100del
ENST00000476387.1:n.116+299_116+301del
NM_000088.3:c.1767+299_1767+301del , LRG_1t1:c.1767+299_1767+301del	NP_000079.2:n.1767+299_1767+301del
XM_005257058.3:c.1767+299_1767+301del	XP_005257115.2:n.1767+299_1767+301del
XM_005257059.3:c.958-951_958-949del	XP_005257116.2:n.958-951_958-949del
XM_011524341.1:c.1569+299_1569+301del	XP_011522643.1:n.1569+299_1569+301del
XM_005257058.4:c.1767+299_1767+301del	XP_005257115.2:n.1767+299_1767+301del
XM_005257059.4:c.958-951_958-949del	XP_005257116.2:n.958-951_958-949del
NM_000088.4:c.1767+299_1767+301del MANE Select	NP_000079.2:n.1767+299_1767+301del