Canonical Allele Identifier: CA645569635

Gene: COL1A1

Linked Data

• COSMIC: COSM5852871

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194015_50194016delinsAA , CM000679.2:g.50194015_50194016delinsAA	GRCh38
NC_000017.10:g.48271376_48271377delinsAA , CM000679.1:g.48271376_48271377delinsAA	GRCh37
NC_000017.9:g.45626375_45626376delinsAA	NCBI36
NG_007400.1:g.12624_12625delinsTT , LRG_1:g.12624_12625delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1694_1695delinsTT MANE Select	ENSP00000225964.6:p.Pro565Leu
ENST00000225964.9:c.1694_1695delinsTT	ENSP00000225964.5:p.Pro565Leu
ENST00000463440.1:n.84_85delinsTT
ENST00000471344.1:n.726_727delinsTT
ENST00000476387.1:n.43_44delinsTT
NM_000088.3:c.1694_1695delinsTT , LRG_1t1:c.1694_1695delinsTT	NP_000079.2:p.Pro565Leu
XM_005257058.3:c.1694_1695delinsTT	XP_005257115.2:p.Pro565Leu
XM_005257059.3:c.958-1323_958-1322delinsTT	XP_005257116.2:n.958-1323_958-1322delinsTT
XM_011524341.1:c.1496_1497delinsTT	XP_011522643.1:p.Pro499Leu
XM_005257058.4:c.1694_1695delinsTT	XP_005257115.2:p.Pro565Leu
XM_005257059.4:c.958-1323_958-1322delinsTT	XP_005257116.2:n.958-1323_958-1322delinsTT
NM_000088.4:c.1694_1695delinsTT MANE Select	NP_000079.2:p.Pro565Leu