Canonical Allele Identifier: CA2638709502

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193171-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193175dup , CM000679.2:g.50193175dup	GRCh38
NC_000017.10:g.48270536dup , CM000679.1:g.48270536dup	GRCh37
NC_000017.9:g.45625535dup	NCBI36
NG_007400.1:g.13468dup , LRG_1:g.13468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-125dup MANE Select	ENSP00000225964.6:n.1768-125dup
ENST00000225964.9:c.1768-125dup	ENSP00000225964.5:n.1768-125dup
ENST00000476387.1:n.117-125dup
NM_000088.3:c.1768-125dup , LRG_1t1:c.1768-125dup	NP_000079.2:n.1768-125dup
XM_005257058.3:c.1768-125dup	XP_005257115.2:n.1768-125dup
XM_005257059.3:c.958-479dup	XP_005257116.2:n.958-479dup
XM_011524341.1:c.1570-125dup	XP_011522643.1:n.1570-125dup
XM_005257058.4:c.1768-125dup	XP_005257115.2:n.1768-125dup
XM_005257059.4:c.958-479dup	XP_005257116.2:n.958-479dup
NM_000088.4:c.1768-125dup MANE Select	NP_000079.2:n.1768-125dup