Canonical Allele Identifier: CA626486181

Gene: COL1A1

Linked Data

• dbSNP Id: rs1308528664
• gnomAD v2: 17-48276077-T-TGTGGTGAGGGGC
• gnomAD v3: 17-50198716-T-TGTGGTGAGGGGC
• gnomAD v4: 17-50198716-T-TGTGGTGAGGGGC
• MyVariant Identifiers: chr17:g.48276077_48276078insGTGGTGAGGGGC (hg19) ; chr17:g.50198716_50198717insGTGGTGAGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198716_50198717insGTGGTGAGGGGC , CM000679.2:g.50198716_50198717insGTGGTGAGGGGC	GRCh38
NC_000017.10:g.48276077_48276078insGTGGTGAGGGGC , CM000679.1:g.48276077_48276078insGTGGTGAGGGGC	GRCh37
NC_000017.9:g.45631076_45631077insGTGGTGAGGGGC	NCBI36
NG_007400.1:g.7923_7924insGCCCCTCACCAC , LRG_1:g.7923_7924insGCCCCTCACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-213_472-212insGCCCCTCACCAC MANE Select	ENSP00000225964.6:n.472-213_472-212insGCCCCTCACCAC
ENST00000225964.9:c.472-213_472-212insGCCCCTCACCAC	ENSP00000225964.5:n.472-213_472-212insGCCCCTCACCAC
NM_000088.3:c.472-213_472-212insGCCCCTCACCAC , LRG_1t1:c.472-213_472-212insGCCCCTCACCAC	NP_000079.2:n.472-213_472-212insGCCCCTCACCAC
XM_005257058.3:c.472-213_472-212insGCCCCTCACCAC	XP_005257115.2:n.472-213_472-212insGCCCCTCACCAC
XM_005257059.3:c.472-213_472-212insGCCCCTCACCAC	XP_005257116.2:n.472-213_472-212insGCCCCTCACCAC
XM_011524341.1:c.472-213_472-212insGCCCCTCACCAC	XP_011522643.1:n.472-213_472-212insGCCCCTCACCAC
XM_005257058.4:c.472-213_472-212insGCCCCTCACCAC	XP_005257115.2:n.472-213_472-212insGCCCCTCACCAC
XM_005257059.4:c.472-213_472-212insGCCCCTCACCAC	XP_005257116.2:n.472-213_472-212insGCCCCTCACCAC
NM_000088.4:c.472-213_472-212insGCCCCTCACCAC MANE Select	NP_000079.2:n.472-213_472-212insGCCCCTCACCAC