Canonical Allele Identifier: CA984451747

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907560526
• gnomAD v3: 17-50196105-C-CTGAG
• gnomAD v4: 17-50196105-C-CTGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196106_50196109dup , CM000679.2:g.50196106_50196109dup	GRCh38
NC_000017.10:g.48273467_48273470dup , CM000679.1:g.48273467_48273470dup	GRCh37
NC_000017.9:g.45628466_45628469dup	NCBI36
NG_007400.1:g.10531_10534dup , LRG_1:g.10531_10534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1002+46_1002+49dup MANE Select	ENSP00000225964.6:n.1002+46_1002+49dup
ENST00000225964.9:c.1002+46_1002+49dup	ENSP00000225964.5:n.1002+46_1002+49dup
ENST00000485870.1:n.373_376dup
NM_000088.3:c.1002+46_1002+49dup , LRG_1t1:c.1002+46_1002+49dup	NP_000079.2:n.1002+46_1002+49dup
XM_005257058.3:c.1002+46_1002+49dup	XP_005257115.2:n.1002+46_1002+49dup
XM_005257059.3:c.957+205_957+208dup	XP_005257116.2:n.957+205_957+208dup
XM_011524341.1:c.957+205_957+208dup	XP_011522643.1:n.957+205_957+208dup
XM_005257058.4:c.1002+46_1002+49dup	XP_005257115.2:n.1002+46_1002+49dup
XM_005257059.4:c.957+205_957+208dup	XP_005257116.2:n.957+205_957+208dup
NM_000088.4:c.1002+46_1002+49dup MANE Select	NP_000079.2:n.1002+46_1002+49dup