Canonical Allele Identifier: CA645569624

Gene: COL1A1

Linked Data

• COSMIC: COSM6458520

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185899_50185901del , CM000679.2:g.50185899_50185901del	GRCh38
NC_000017.10:g.48263260_48263262del , CM000679.1:g.48263260_48263262del	GRCh37
NC_000017.9:g.45618259_45618261del	NCBI36
NG_007400.1:g.20740_20742del , LRG_1:g.20740_20742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4126_4128del MANE Select	ENSP00000225964.6:p.Tyr1376del
ENST00000225964.9:c.4126_4128del	ENSP00000225964.5:p.Tyr1376del
ENST00000510710.3:n.1091_1093del
NM_000088.3:c.4126_4128del , LRG_1t1:c.4126_4128del	NP_000079.2:p.Tyr1376del
XM_005257058.3:c.3856_3858del	XP_005257115.2:p.Tyr1286del
XM_005257059.3:c.3208_3210del	XP_005257116.2:p.Tyr1070del
XM_011524341.1:c.3928_3930del	XP_011522643.1:p.Tyr1310del
XM_005257058.4:c.3856_3858del	XP_005257115.2:p.Tyr1286del
XM_005257059.4:c.3208_3210del	XP_005257116.2:p.Tyr1070del
NM_000088.4:c.4126_4128del MANE Select	NP_000079.2:p.Tyr1376del