Canonical Allele Identifier: CA2809757334

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195978_50195979insCCAGGGCGACCTCTCTCACCAGGCAGGCCACG , CM000679.2:g.50195978_50195979insCCAGGGCGACCTCTCTCACCAGGCAGGCCACG	GRCh38
NC_000017.10:g.48273339_48273340insCCAGGGCGACCTCTCTCACCAGGCAGGCCACG , CM000679.1:g.48273339_48273340insCCAGGGCGACCTCTCTCACCAGGCAGGCCACG	GRCh37
NC_000017.9:g.45628338_45628339insCCAGGGCGACCTCTCTCACCAGGCAGGCCACG	NCBI36
NG_007400.1:g.10661_10662insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG , LRG_1:g.10661_10662insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG MANE Select	ENSP00000225964.6:n.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTC...
ENST00000225964.9:c.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG	ENSP00000225964.5:n.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTC...
NM_000088.3:c.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG , LRG_1t1:c.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG	NP_000079.2:n.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTG...
XM_005257058.3:c.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG	XP_005257115.2:n.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCC...
XM_005257059.3:c.957+335_957+336insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG	XP_005257116.2:n.957+335_957+336insCGTGGCCTGCCTGGTGAGAGAGGTCG...
XM_011524341.1:c.957+335_957+336insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG	XP_011522643.1:n.957+335_957+336insCGTGGCCTGCCTGGTGAGAGAGGTCG...
XM_005257058.4:c.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG	XP_005257115.2:n.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCC...
XM_005257059.4:c.957+335_957+336insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG	XP_005257116.2:n.957+335_957+336insCGTGGCCTGCCTGGTGAGAGAGGTCG...
NM_000088.4:c.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTGG MANE Select	NP_000079.2:n.1003-3_1003-2insCGTGGCCTGCCTGGTGAGAGAGGTCGCCCTG...