Canonical Allele Identifier: CA2576317761

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199364_50199365del , CM000679.2:g.50199364_50199365del	GRCh38
NC_000017.10:g.48276725_48276726del , CM000679.1:g.48276725_48276726del	GRCh37
NC_000017.9:g.45631724_45631725del	NCBI36
NG_007400.1:g.7277_7278del , LRG_1:g.7277_7278del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-36_370-35del MANE Select	ENSP00000225964.6:n.370-36_370-35del
ENST00000225964.9:c.370-36_370-35del	ENSP00000225964.5:n.370-36_370-35del
ENST00000474644.1:n.591-36_591-35del
ENST00000507689.1:c.424-36_424-35del	ENSP00000460459.1:n.424-36_424-35del
NM_000088.3:c.370-36_370-35del , LRG_1t1:c.370-36_370-35del	NP_000079.2:n.370-36_370-35del
XM_005257058.3:c.370-36_370-35del	XP_005257115.2:n.370-36_370-35del
XM_005257059.3:c.370-36_370-35del	XP_005257116.2:n.370-36_370-35del
XM_011524341.1:c.370-36_370-35del	XP_011522643.1:n.370-36_370-35del
XM_005257058.4:c.370-36_370-35del	XP_005257115.2:n.370-36_370-35del
XM_005257059.4:c.370-36_370-35del	XP_005257116.2:n.370-36_370-35del
NM_000088.4:c.370-36_370-35del MANE Select	NP_000079.2:n.370-36_370-35del