Canonical Allele Identifier: CA2263915225

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188596_50188605delinsAGCACCAGGG , CM000679.2:g.50188596_50188605delinsAGCACCAGGG	GRCh38
NC_000017.10:g.48265957_48265966delinsAGCACCAGGG , CM000679.1:g.48265957_48265966delinsAGCACCAGGG	GRCh37
NC_000017.9:g.45620956_45620965delinsAGCACCAGGG	NCBI36
NG_007400.1:g.18035_18044delinsCCCTGGTGCT , LRG_1:g.18035_18044delinsCCCTGGTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3132_3141delinsCCCTGGTGCT MANE Select	ENSP00000225964.6:p.Pro1044=
ENST00000225964.9:c.3132_3141delinsCCCTGGTGCT	ENSP00000225964.5:p.Pro1044=
ENST00000511732.1:n.76_85delinsCCCTGGTGCT
NM_000088.3:c.3132_3141delinsCCCTGGTGCT , LRG_1t1:c.3132_3141delinsCCCTGGTGCT	NP_000079.2:p.Pro1044=
XM_005257058.3:c.2862_2871delinsCCCTGGTGCT	XP_005257115.2:p.Pro954=
XM_005257059.3:c.2214_2223delinsCCCTGGTGCT	XP_005257116.2:p.Pro738=
XM_011524341.1:c.2934_2943delinsCCCTGGTGCT	XP_011522643.1:p.Pro978=
XM_005257058.4:c.2862_2871delinsCCCTGGTGCT	XP_005257115.2:p.Pro954=
XM_005257059.4:c.2214_2223delinsCCCTGGTGCT	XP_005257116.2:p.Pro738=
NM_000088.4:c.3132_3141delinsCCCTGGTGCT MANE Select	NP_000079.2:p.Pro1044=