Canonical Allele Identifier: CA2692045976

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129819054-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819059_129819061del , CM000671.2:g.129819059_129819061del	GRCh38
NC_000009.11:g.132581338_132581340del , CM000671.1:g.132581338_132581340del	GRCh37
NC_000009.10:g.131621159_131621161del	NCBI36
NG_008049.1:g.10106_10108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-137_445-135del MANE Select	ENSP00000345719.4:n.445-137_445-135del
ENST00000651202.1:c.541-137_541-135del	ENSP00000498222.1:n.541-137_541-135del
ENST00000351698.4:c.445-137_445-135del	ENSP00000345719.4:n.445-137_445-135del
ENST00000473604.2:n.555-137_555-135del
NM_000113.2:c.445-137_445-135del	NP_000104.1:n.445-137_445-135del
XR_929731.1:n.605-137_605-135del
XR_929731.3:n.473-137_473-135del
NM_000113.3:c.445-137_445-135del MANE Select	NP_000104.1:n.445-137_445-135del