Canonical Allele Identifier: CA531761888

Gene: OTOF

Linked Data

• dbSNP Id: rs1355522131
• gnomAD v2: 2-26700744-CTGAGTATCGGTCATCA-C
• gnomAD v4: 2-26477876-CTGAGTATCGGTCATCA-C
• MyVariant Identifiers: chr2:g.26700745_26700760del (hg19) ; chr2:g.26477877_26477892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477881_26477896del , CM000664.2:g.26477881_26477896del	GRCh38
NC_000002.11:g.26700749_26700764del , CM000664.1:g.26700749_26700764del	GRCh37
NC_000002.10:g.26554253_26554268del	NCBI36
NG_009937.1:g.85807_85822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2215-143_2215-128del MANE Select	ENSP00000272371.2:n.2215-143_2215-128del
ENST00000339598.8:c.-76_-61del MANE Plus Clinical	ENSP00000344521.3:n.-76_-61del
ENST00000402415.8:c.-170_-155del	ENSP00000383906.4:n.-170_-155del
ENST00000272371.6:c.2215-143_2215-128del	ENSP00000272371.2:n.2215-143_2215-128del
ENST00000338581.10:c.-76_-61del	ENSP00000345137.6:n.-76_-61del
ENST00000339598.7:c.-76_-61del	ENSP00000344521.3:n.-76_-61del
ENST00000402415.7:c.2_17del	ENSP00000383906.3:p.Met1ArgfsTer11
ENST00000403946.7:c.2215-143_2215-128del	ENSP00000385255.3:n.2215-143_2215-128del
NM_001287489.1:c.2215-143_2215-128del	NP_001274418.1:n.2215-143_2215-128del
NM_004802.3:c.-76_-61del	NP_004793.2:n.-76_-61del
NM_194248.2:c.2215-143_2215-128del	NP_919224.1:n.2215-143_2215-128del
NM_194322.2:c.2_17del	NP_919303.1:p.Met1ArgfsTer11
NM_194323.2:c.-76_-61del	NP_919304.1:n.-76_-61del
XM_005264644.2:c.2260-143_2260-128del	XP_005264701.1:n.2260-143_2260-128del
XM_011533185.1:c.2260-143_2260-128del	XP_011531487.1:n.2260-143_2260-128del
XM_017005338.1:c.2215-143_2215-128del	XP_016860827.1:n.2215-143_2215-128del
NM_001287489.2:c.2215-143_2215-128del	NP_001274418.1:n.2215-143_2215-128del
NM_004802.4:c.-76_-61del	NP_004793.2:n.-76_-61del
NM_194248.3:c.2215-143_2215-128del MANE Select	NP_919224.1:n.2215-143_2215-128del
NM_194322.3:c.2_17del	NP_919303.1:p.Met1ArgfsTer11
NM_194323.3:c.-76_-61del MANE Plus Clinical	NP_919304.1:n.-76_-61del