Canonical Allele Identifier: CA2576317475

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196682_50196683del , CM000679.2:g.50196682_50196683del	GRCh38
NC_000017.10:g.48274043_48274044del , CM000679.1:g.48274043_48274044del	GRCh37
NC_000017.9:g.45629042_45629043del	NCBI36
NG_007400.1:g.9958_9959del , LRG_1:g.9958_9959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-12_805-11del MANE Select	ENSP00000225964.6:n.805-12_805-11del
ENST00000225964.9:c.805-12_805-11del	ENSP00000225964.5:n.805-12_805-11del
ENST00000495677.1:n.532-12_532-11del
NM_000088.3:c.805-12_805-11del , LRG_1t1:c.805-12_805-11del	NP_000079.2:n.805-12_805-11del
XM_005257058.3:c.805-12_805-11del	XP_005257115.2:n.805-12_805-11del
XM_005257059.3:c.805-12_805-11del	XP_005257116.2:n.805-12_805-11del
XM_011524341.1:c.805-12_805-11del	XP_011522643.1:n.805-12_805-11del
XM_005257058.4:c.805-12_805-11del	XP_005257115.2:n.805-12_805-11del
XM_005257059.4:c.805-12_805-11del	XP_005257116.2:n.805-12_805-11del
NM_000088.4:c.805-12_805-11del MANE Select	NP_000079.2:n.805-12_805-11del