Canonical Allele Identifier: CA2638676856

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50196271-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196273dup , CM000679.2:g.50196273dup	GRCh38
NC_000017.10:g.48273634dup , CM000679.1:g.48273634dup	GRCh37
NC_000017.9:g.45628633dup	NCBI36
NG_007400.1:g.10368dup , LRG_1:g.10368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.957+42dup MANE Select	ENSP00000225964.6:n.957+42dup
ENST00000225964.9:c.957+42dup	ENSP00000225964.5:n.957+42dup
ENST00000485870.1:n.282+42dup
NM_000088.3:c.957+42dup , LRG_1t1:c.957+42dup	NP_000079.2:n.957+42dup
XM_005257058.3:c.957+42dup	XP_005257115.2:n.957+42dup
XM_005257059.3:c.957+42dup	XP_005257116.2:n.957+42dup
XM_011524341.1:c.957+42dup	XP_011522643.1:n.957+42dup
XM_005257058.4:c.957+42dup	XP_005257115.2:n.957+42dup
XM_005257059.4:c.957+42dup	XP_005257116.2:n.957+42dup
NM_000088.4:c.957+42dup MANE Select	NP_000079.2:n.957+42dup