Canonical Allele Identifier: CA2741540606

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192962_50192978dup , CM000679.2:g.50192962_50192978dup	GRCh38
NC_000017.10:g.48270323_48270339dup , CM000679.1:g.48270323_48270339dup	GRCh37
NC_000017.9:g.45625322_45625338dup	NCBI36
NG_007400.1:g.13666_13682dup , LRG_1:g.13666_13682dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+20_1821+36dup MANE Select	ENSP00000225964.6:n.1821+20_1821+36dup
ENST00000225964.9:c.1821+20_1821+36dup	ENSP00000225964.5:n.1821+20_1821+36dup
ENST00000476387.1:n.170+20_170+36dup
NM_000088.3:c.1821+20_1821+36dup , LRG_1t1:c.1821+20_1821+36dup	NP_000079.2:n.1821+20_1821+36dup
XM_005257058.3:c.1821+20_1821+36dup	XP_005257115.2:n.1821+20_1821+36dup
XM_005257059.3:c.958-281_958-265dup	XP_005257116.2:n.958-281_958-265dup
XM_011524341.1:c.1623+20_1623+36dup	XP_011522643.1:n.1623+20_1623+36dup
XM_005257058.4:c.1821+20_1821+36dup	XP_005257115.2:n.1821+20_1821+36dup
XM_005257059.4:c.958-281_958-265dup	XP_005257116.2:n.958-281_958-265dup
NM_000088.4:c.1821+20_1821+36dup MANE Select	NP_000079.2:n.1821+20_1821+36dup