Canonical Allele Identifier: CA10640050

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324067
• ClinVar RCV Id: RCV000290002 ; RCV000347263 ; RCV000380827
• dbSNP Id: rs886053144
• gnomAD v3: 17-50184493-AAG-A
• gnomAD v4: 17-50184493-AAG-A
• MyVariant Identifiers: chr17:g.48261855_48261856del (hg19) ; chr17:g.50184494_50184495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50184495_50184496del , CM000679.2:g.50184495_50184496del	GRCh38
NC_000017.10:g.48261856_48261857del , CM000679.1:g.48261856_48261857del	GRCh37
NC_000017.9:g.45616855_45616856del	NCBI36
NG_007400.1:g.22145_22146del , LRG_1:g.22145_22146del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.*1007_*1008del MANE Select	ENSP00000225964.6:n.*1007_*1008del
ENST00000225964.9:c.*1007_*1008del	ENSP00000225964.5:n.*1007_*1008del
NM_000088.3:c.*1007_*1008del , LRG_1t1:c.*1007_*1008del	NP_000079.2:n.*1007_*1008del
XM_005257058.3:c.*1007_*1008del	XP_005257115.2:n.*1007_*1008del
XM_005257059.3:c.*1007_*1008del	XP_005257116.2:n.*1007_*1008del
XM_011524341.1:c.*1007_*1008del	XP_011522643.1:n.*1007_*1008del
XM_005257058.4:c.*1007_*1008del	XP_005257115.2:n.*1007_*1008del
XM_005257059.4:c.*1007_*1008del	XP_005257116.2:n.*1007_*1008del
NM_000088.4:c.*1007_*1008del MANE Select	NP_000079.2:n.*1007_*1008del