Canonical Allele Identifier: CA2576317500

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192777_50192784del , CM000679.2:g.50192777_50192784del	GRCh38
NC_000017.10:g.48270138_48270145del , CM000679.1:g.48270138_48270145del	GRCh37
NC_000017.9:g.45625137_45625144del	NCBI36
NG_007400.1:g.13859_13866del , LRG_1:g.13859_13866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+16_1875+23del MANE Select	ENSP00000225964.6:n.1875+16_1875+23del
ENST00000225964.9:c.1875+16_1875+23del	ENSP00000225964.5:n.1875+16_1875+23del
ENST00000476387.1:n.224+16_224+23del
NM_000088.3:c.1875+16_1875+23del , LRG_1t1:c.1875+16_1875+23del	NP_000079.2:n.1875+16_1875+23del
XM_005257058.3:c.1875+16_1875+23del	XP_005257115.2:n.1875+16_1875+23del
XM_005257059.3:c.958-88_958-81del	XP_005257116.2:n.958-88_958-81del
XM_011524341.1:c.1677+16_1677+23del	XP_011522643.1:n.1677+16_1677+23del
XM_005257058.4:c.1875+16_1875+23del	XP_005257115.2:n.1875+16_1875+23del
XM_005257059.4:c.958-88_958-81del	XP_005257116.2:n.958-88_958-81del
NM_000088.4:c.1875+16_1875+23del MANE Select	NP_000079.2:n.1875+16_1875+23del