Canonical Allele Identifier: CA1139667612

Gene: OPHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68194496_68194513del , CM000685.2:g.68194496_68194513del	GRCh38
NC_000023.10:g.67414338_67414355del , CM000685.1:g.67414338_67414355del	GRCh37
NC_000023.9:g.67331063_67331080del	NCBI36
NG_008960.1:g.243947_243964del

Transcript Alleles

HGVS	Amino-acid Change
NM_002547.2:c.1105-13_1109del
NM_002547.3:c.1105-13_1109del
ENST00000355520.5:c.1105-13_1109del
ENST00000355520.6:c.1105-13_1109del
ENST00000467444.1:n.389-13_393del
ENST00000679748.1:c.1105-13_1109del
ENST00000679822.1:c.1105-13_1109del
ENST00000680592.1:n.611-13_615del
ENST00000680612.1:c.1105-13_1109del
ENST00000681408.1:c.1000-13_1004del
XM_005262270.1:c.1105-13_1109del
XM_006724653.1:c.1105-13_1109del
XM_006724653.2:c.1105-13_1109del
XM_011530961.1:c.1105-13_1109del
XM_017029555.1:c.1105-13_1109del