Canonical Allele Identifier: CA2638710322

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194694-C-CACTGGCACCAGCCAGGCAATGAGGGTGGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194694_50194695insACTGGCACCAGCCAGGCAATGAGGGTGGAGT , CM000679.2:g.50194694_50194695insACTGGCACCAGCCAGGCAATGAGGGTGGAGT	GRCh38
NC_000017.10:g.48272055_48272056insACTGGCACCAGCCAGGCAATGAGGGTGGAGT , CM000679.1:g.48272055_48272056insACTGGCACCAGCCAGGCAATGAGGGTGGAGT	GRCh37
NC_000017.9:g.45627054_45627055insACTGGCACCAGCCAGGCAATGAGGGTGGAGT	NCBI36
NG_007400.1:g.11945_11946insACTCCACCCTCATTGCCTGGCTGGTGCCAGT , LRG_1:g.11945_11946insACTCCACCCTCATTGCCTGGCTGGTGCCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT MANE Select	ENSP00000225964.6:n.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTG...
ENST00000225964.9:c.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT	ENSP00000225964.5:n.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTG...
ENST00000471344.1:n.405+26_405+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT
NM_000088.3:c.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT , LRG_1t1:c.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT	NP_000079.2:n.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCA...
XM_005257058.3:c.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT	XP_005257115.2:n.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTG...
XM_005257059.3:c.957+1619_957+1620insACTCCACCCTCATTGCCTGGCTGGTGCCAGT	XP_005257116.2:n.957+1619_957+1620insACTCCACCCTCATTGCCTGGCTGG...
XM_011524341.1:c.1263+26_1263+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT	XP_011522643.1:n.1263+26_1263+27insACTCCACCCTCATTGCCTGGCTGGTG...
XM_005257058.4:c.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT	XP_005257115.2:n.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTG...
XM_005257059.4:c.957+1619_957+1620insACTCCACCCTCATTGCCTGGCTGGTGCCAGT	XP_005257116.2:n.957+1619_957+1620insACTCCACCCTCATTGCCTGGCTGG...
NM_000088.4:c.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCAGT MANE Select	NP_000079.2:n.1461+26_1461+27insACTCCACCCTCATTGCCTGGCTGGTGCCA...