Canonical Allele Identifier: CA2263917503

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193313_50193314delinsTC , CM000679.2:g.50193313_50193314delinsTC	GRCh38
NC_000017.10:g.48270674_48270675delinsTC , CM000679.1:g.48270674_48270675delinsTC	GRCh37
NC_000017.9:g.45625673_45625674delinsTC	NCBI36
NG_007400.1:g.13326_13327delinsGA , LRG_1:g.13326_13327delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-267_1768-266delinsGA MANE Select	ENSP00000225964.6:n.1768-267_1768-266delinsGA
ENST00000225964.9:c.1768-267_1768-266delinsGA	ENSP00000225964.5:n.1768-267_1768-266delinsGA
ENST00000476387.1:n.117-267_117-266delinsGA
NM_000088.3:c.1768-267_1768-266delinsGA , LRG_1t1:c.1768-267_1768-266delinsGA	NP_000079.2:n.1768-267_1768-266delinsGA
XM_005257058.3:c.1768-267_1768-266delinsGA	XP_005257115.2:n.1768-267_1768-266delinsGA
XM_005257059.3:c.958-621_958-620delinsGA	XP_005257116.2:n.958-621_958-620delinsGA
XM_011524341.1:c.1570-267_1570-266delinsGA	XP_011522643.1:n.1570-267_1570-266delinsGA
XM_005257058.4:c.1768-267_1768-266delinsGA	XP_005257115.2:n.1768-267_1768-266delinsGA
XM_005257059.4:c.958-621_958-620delinsGA	XP_005257116.2:n.958-621_958-620delinsGA
NM_000088.4:c.1768-267_1768-266delinsGA MANE Select	NP_000079.2:n.1768-267_1768-266delinsGA