Canonical Allele Identifier: CA10640052

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324076
• ClinVar RCV Id: RCV000311883 ; RCV000351512 ; RCV000403912 ; RCV001643011
• dbSNP Id: rs3840870
• gnomAD v2: 17-48262181-G-GTGCT
• gnomAD v3: 17-50184820-G-GTGCT
• gnomAD v4: 17-50184820-G-GTGCT
• COSMIC: COSN20114166 ; COSN20114167
• MyVariant Identifiers: chr17:g.48262183_48262184insCTTG (hg19) ; chr17:g.48262182_48262183insGCTT (hg19) ; chr17:g.48262181_48262182insTGCT (hg19) ; chr17:g.50184822_50184823insCTTG (hg38) ; chr17:g.50184821_50184822insGCTT (hg38) ; chr17:g.50184820_50184821insTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50184822_50184823insCTTG , CM000679.2:g.50184822_50184823insCTTG	GRCh38
NC_000017.10:g.48262183_48262184insCTTG , CM000679.1:g.48262183_48262184insCTTG	GRCh37
NC_000017.9:g.45617182_45617183insCTTG	NCBI36
NG_007400.1:g.21819_21820insAGCA , LRG_1:g.21819_21820insAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*681_*682insAGCA MANE Select	ENSP00000225964.6:n.*681_*682insAGCA
ENST00000225964.9:c.*681_*682insAGCA	ENSP00000225964.5:n.*681_*682insAGCA
NM_000088.3:c.*681_*682insAGCA , LRG_1t1:c.*681_*682insAGCA	NP_000079.2:n.*681_*682insAGCA
XM_005257058.3:c.*681_*682insAGCA	XP_005257115.2:n.*681_*682insAGCA
XM_005257059.3:c.*681_*682insAGCA	XP_005257116.2:n.*681_*682insAGCA
XM_011524341.1:c.*681_*682insAGCA	XP_011522643.1:n.*681_*682insAGCA
XM_005257058.4:c.*681_*682insAGCA	XP_005257115.2:n.*681_*682insAGCA
XM_005257059.4:c.*681_*682insAGCA	XP_005257116.2:n.*681_*682insAGCA
NM_000088.4:c.*681_*682insAGCA MANE Select	NP_000079.2:n.*681_*682insAGCA