Canonical Allele Identifier: CA2695226667

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195560_50195563del , CM000679.2:g.50195560_50195563del	GRCh38
NC_000017.10:g.48272921_48272924del , CM000679.1:g.48272921_48272924del	GRCh37
NC_000017.9:g.45627920_45627923del	NCBI36
NG_007400.1:g.11077_11080del , LRG_1:g.11077_11080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1155+4_1155+7del MANE Select	ENSP00000225964.6:n.1155+4_1155+7del
ENST00000225964.9:c.1155+4_1155+7del	ENSP00000225964.5:n.1155+4_1155+7del
ENST00000471344.1:n.99+4_99+7del
NM_000088.3:c.1155+4_1155+7del , LRG_1t1:c.1155+4_1155+7del	NP_000079.2:n.1155+4_1155+7del
XM_005257058.3:c.1155+4_1155+7del	XP_005257115.2:n.1155+4_1155+7del
XM_005257059.3:c.957+751_957+754del	XP_005257116.2:n.957+751_957+754del
XM_011524341.1:c.958-85_958-82del	XP_011522643.1:n.958-85_958-82del
XM_005257058.4:c.1155+4_1155+7del	XP_005257115.2:n.1155+4_1155+7del
XM_005257059.4:c.957+751_957+754del	XP_005257116.2:n.957+751_957+754del
NM_000088.4:c.1155+4_1155+7del MANE Select	NP_000079.2:n.1155+4_1155+7del