Canonical Allele Identifier: CA2809756915

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCG , CM000679.2:g.50185649_50185650insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCG	GRCh38
NC_000017.10:g.48263010_48263011insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCG , CM000679.1:g.48263010_48263011insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCG	GRCh37
NC_000017.9:g.45618009_45618010insGTGCAGCCATCGACAGTGACGCTGTAGGTGAAGCGGCTGTTGCCCTCGGCGCGGATCTCGATCTCG	NCBI36
NG_007400.1:g.20990_20991insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC , LRG_1:g.20990_20991insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC MANE Select	ENSP00000225964.6:n.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGC...
ENST00000225964.9:c.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC	ENSP00000225964.5:n.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGC...
NM_000088.3:c.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC , LRG_1t1:c.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC	NP_000079.2:n.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGC...
XM_005257058.3:c.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC	XP_005257115.2:n.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAAC...
XM_005257059.3:c.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC	XP_005257116.2:n.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAAC...
XM_011524341.1:c.4051-2_4051-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC	XP_011522643.1:n.4051-2_4051-1insCGAGATCGAGATCCGCGCCGAGGGCAAC...
XM_005257058.4:c.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC	XP_005257115.2:n.3979-2_3979-1insCGAGATCGAGATCCGCGCCGAGGGCAAC...
XM_005257059.4:c.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC	XP_005257116.2:n.3331-2_3331-1insCGAGATCGAGATCCGCGCCGAGGGCAAC...
NM_000088.4:c.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCAC MANE Select	NP_000079.2:n.4249-2_4249-1insCGAGATCGAGATCCGCGCCGAGGGCAACAGC...