Canonical Allele Identifier: CA2695226679

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195957_50195959dup , CM000679.2:g.50195957_50195959dup	GRCh38
NC_000017.10:g.48273318_48273320dup , CM000679.1:g.48273318_48273320dup	GRCh37
NC_000017.9:g.45628317_45628319dup	NCBI36
NG_007400.1:g.10682_10684dup , LRG_1:g.10682_10684dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1021_1023dup MANE Select	ENSP00000225964.6:p.Gly341_Pro342insGly
ENST00000225964.9:c.1021_1023dup	ENSP00000225964.5:p.Gly341_Pro342insGly
NM_000088.3:c.1021_1023dup , LRG_1t1:c.1021_1023dup	NP_000079.2:p.Gly341_Pro342insGly
XM_005257058.3:c.1021_1023dup	XP_005257115.2:p.Gly341_Pro342insGly
XM_005257059.3:c.957+356_957+358dup	XP_005257116.2:n.957+356_957+358dup
XM_011524341.1:c.957+356_957+358dup	XP_011522643.1:n.957+356_957+358dup
XM_005257058.4:c.1021_1023dup	XP_005257115.2:p.Gly341_Pro342insGly
XM_005257059.4:c.957+356_957+358dup	XP_005257116.2:n.957+356_957+358dup
NM_000088.4:c.1021_1023dup MANE Select	NP_000079.2:p.Gly341_Pro342insGly