Canonical Allele Identifier: CA626485985

Gene: COL1A1

Linked Data

• dbSNP Id: rs1179869087
• gnomAD v2: 17-48273571-G-GAGGGGAAGCCCCGTT
• gnomAD v4: 17-50196210-G-GAGGGGAAGCCCCGTT
• MyVariant Identifiers: chr17:g.48273571_48273572insAGGGGAAGCCCCGTT (hg19) ; chr17:g.50196210_50196211insAGGGGAAGCCCCGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196212_50196226dup , CM000679.2:g.50196212_50196226dup	GRCh38
NC_000017.10:g.48273573_48273587dup , CM000679.1:g.48273573_48273587dup	GRCh37
NC_000017.9:g.45628572_45628586dup	NCBI36
NG_007400.1:g.10415_10429dup , LRG_1:g.10415_10429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.958-26_958-12dup MANE Select	ENSP00000225964.6:n.958-26_958-12dup
ENST00000225964.9:c.958-26_958-12dup	ENSP00000225964.5:n.958-26_958-12dup
ENST00000485870.1:n.283-26_283-12dup
NM_000088.3:c.958-26_958-12dup , LRG_1t1:c.958-26_958-12dup	NP_000079.2:n.958-26_958-12dup
XM_005257058.3:c.958-26_958-12dup	XP_005257115.2:n.958-26_958-12dup
XM_005257059.3:c.957+89_957+103dup	XP_005257116.2:n.957+89_957+103dup
XM_011524341.1:c.957+89_957+103dup	XP_011522643.1:n.957+89_957+103dup
XM_005257058.4:c.958-26_958-12dup	XP_005257115.2:n.958-26_958-12dup
XM_005257059.4:c.957+89_957+103dup	XP_005257116.2:n.957+89_957+103dup
NM_000088.4:c.958-26_958-12dup MANE Select	NP_000079.2:n.958-26_958-12dup