Canonical Allele Identifier: CA2809757049

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194671_50194681del , CM000679.2:g.50194671_50194681del	GRCh38
NC_000017.10:g.48272032_48272042del , CM000679.1:g.48272032_48272042del	GRCh37
NC_000017.9:g.45627031_45627041del	NCBI36
NG_007400.1:g.11965_11975del , LRG_1:g.11965_11975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+46_1462-39del MANE Select	ENSP00000225964.6:n.1461+46_1462-39del
ENST00000225964.9:c.1461+46_1462-39del	ENSP00000225964.5:n.1461+46_1462-39del
ENST00000471344.1:n.405+46_406-39del
NM_000088.3:c.1461+46_1462-39del , LRG_1t1:c.1461+46_1462-39del	NP_000079.2:n.1461+46_1462-39del
XM_005257058.3:c.1461+46_1462-39del	XP_005257115.2:n.1461+46_1462-39del
XM_005257059.3:c.957+1639_957+1649del	XP_005257116.2:n.957+1639_957+1649del
XM_011524341.1:c.1263+46_1264-39del	XP_011522643.1:n.1263+46_1264-39del
XM_005257058.4:c.1461+46_1462-39del	XP_005257115.2:n.1461+46_1462-39del
XM_005257059.4:c.957+1639_957+1649del	XP_005257116.2:n.957+1639_957+1649del
NM_000088.4:c.1461+46_1462-39del MANE Select	NP_000079.2:n.1461+46_1462-39del