Canonical Allele Identifier: CA2573334529

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188604_50188605insAGCACCAGA , CM000679.2:g.50188604_50188605insAGCACCAGA	GRCh38
NC_000017.10:g.48265965_48265966insAGCACCAGA , CM000679.1:g.48265965_48265966insAGCACCAGA	GRCh37
NC_000017.9:g.45620964_45620965insAGCACCAGA	NCBI36
NG_007400.1:g.18035_18036insTCTGGTGCT , LRG_1:g.18035_18036insTCTGGTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3132_3133insTCTGGTGCT MANE Select	ENSP00000225964.6:p.Pro1044_Pro1045insSerGlyAla
ENST00000225964.9:c.3132_3133insTCTGGTGCT	ENSP00000225964.5:p.Pro1044_Pro1045insSerGlyAla
ENST00000511732.1:n.76_77insTCTGGTGCT
NM_000088.3:c.3132_3133insTCTGGTGCT , LRG_1t1:c.3132_3133insTCTGGTGCT	NP_000079.2:p.Pro1044_Pro1045insSerGlyAla
XM_005257058.3:c.2862_2863insTCTGGTGCT	XP_005257115.2:p.Pro954_Pro955insSerGlyAla
XM_005257059.3:c.2214_2215insTCTGGTGCT	XP_005257116.2:p.Pro738_Pro739insSerGlyAla
XM_011524341.1:c.2934_2935insTCTGGTGCT	XP_011522643.1:p.Pro978_Pro979insSerGlyAla
XM_005257058.4:c.2862_2863insTCTGGTGCT	XP_005257115.2:p.Pro954_Pro955insSerGlyAla
XM_005257059.4:c.2214_2215insTCTGGTGCT	XP_005257116.2:p.Pro738_Pro739insSerGlyAla
NM_000088.4:c.3132_3133insTCTGGTGCT MANE Select	NP_000079.2:p.Pro1044_Pro1045insSerGlyAla