Canonical Allele Identifier: CA2530286723

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196018_50196019insCGTTCCAGTCCTTGAGACACTATTACAGATGCGACTCTTTGACGAACTTCGTGAGAAGGAACAAGGTGTTTACTCTATCGGTGTACAGGTACGCTACGAACAGCAACCACAAGCAAGCGAAACGATT , CM000679.2:g.50196018_50196019insCGTTCCAGTCCTTGAGACACTATTACAGATGCGACTCTTTGACGAACTTCGTGAGAAGGAACAAGGTGTTTACTCTATCGGTGTACAGGTACGCTACGAACAGCAACCACAAGCAAGCGAAACGATT	GRCh38
NC_000017.10:g.48273379_48273380insCGTTCCAGTCCTTGAGACACTATTACAGATGCGACTCTTTGACGAACTTCGTGAGAAGGAACAAGGTGTTTACTCTATCGGTGTACAGGTACGCTACGAACAGCAACCACAAGCAAGCGAAACGATT , CM000679.1:g.48273379_48273380insCGTTCCAGTCCTTGAGACACTATTACAGATGCGACTCTTTGACGAACTTCGTGAGAAGGAACAAGGTGTTTACTCTATCGGTGTACAGGTACGCTACGAACAGCAACCACAAGCAAGCGAAACGATT	GRCh37
NC_000017.9:g.45628378_45628379insCGTTCCAGTCCTTGAGACACTATTACAGATGCGACTCTTTGACGAACTTCGTGAGAAGGAACAAGGTGTTTACTCTATCGGTGTACAGGTACGCTACGAACAGCAACCACAAGCAAGCGAAACGATT	NCBI36
NG_007400.1:g.10621_10622insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG , LRG_1:g.10621_10622insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG MANE Select	ENSP00000225964.6:n.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTT...
ENST00000225964.9:c.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG	ENSP00000225964.5:n.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTT...
NM_000088.3:c.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG , LRG_1t1:c.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG	NP_000079.2:n.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTT...
XM_005257058.3:c.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG	XP_005257115.2:n.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCT...
XM_005257059.3:c.957+295_957+296insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG	XP_005257116.2:n.957+295_957+296insAATCGTTTCGCTTGCTTGTGGTTGCT...
XM_011524341.1:c.957+295_957+296insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG	XP_011522643.1:n.957+295_957+296insAATCGTTTCGCTTGCTTGTGGTTGCT...
XM_005257058.4:c.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG	XP_005257115.2:n.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCT...
XM_005257059.4:c.957+295_957+296insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG	XP_005257116.2:n.957+295_957+296insAATCGTTTCGCTTGCTTGTGGTTGCT...
NM_000088.4:c.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTTCGTAGCGTACCTGTACACCGATAGAGTAAACACCTTGTTCCTTCTCACGAAGTTCGTCAAAGAGTCGCATCTGTAATAGTGTCTCAAGGACTGGAACG MANE Select	NP_000079.2:n.1003-43_1003-42insAATCGTTTCGCTTGCTTGTGGTTGCTGTT...