Canonical Allele Identifier: CA2809757328

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192760_50192765del , CM000679.2:g.50192760_50192765del	GRCh38
NC_000017.10:g.48270121_48270126del , CM000679.1:g.48270121_48270126del	GRCh37
NC_000017.9:g.45625120_45625125del	NCBI36
NG_007400.1:g.13875_13880del , LRG_1:g.13875_13880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+32_1875+37del MANE Select	ENSP00000225964.6:n.1875+32_1875+37del
ENST00000225964.9:c.1875+32_1875+37del	ENSP00000225964.5:n.1875+32_1875+37del
ENST00000476387.1:n.224+32_224+37del
NM_000088.3:c.1875+32_1875+37del , LRG_1t1:c.1875+32_1875+37del	NP_000079.2:n.1875+32_1875+37del
XM_005257058.3:c.1875+32_1875+37del	XP_005257115.2:n.1875+32_1875+37del
XM_005257059.3:c.958-72_958-67del	XP_005257116.2:n.958-72_958-67del
XM_011524341.1:c.1677+32_1677+37del	XP_011522643.1:n.1677+32_1677+37del
XM_005257058.4:c.1875+32_1875+37del	XP_005257115.2:n.1875+32_1875+37del
XM_005257059.4:c.958-72_958-67del	XP_005257116.2:n.958-72_958-67del
NM_000088.4:c.1875+32_1875+37del MANE Select	NP_000079.2:n.1875+32_1875+37del