Canonical Allele Identifier: CA2639825348

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75519044-CAAGGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75519047_75519052del , CM000679.2:g.75519047_75519052del	GRCh38
NC_000017.10:g.73515128_73515133del , CM000679.1:g.73515128_73515133del	GRCh37
NC_000017.9:g.71026723_71026728del	NCBI36
NG_013041.1:g.7520_7525del
NG_033152.1:g.1534_1539del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.521_521+5del
ENST00000434205.8:c.218_218+5del
ENST00000545228.3:c.521_521+5del
ENST00000579449.2:n.320_320+5del
ENST00000580013.6:n.530_530+5del
ENST00000583818.2:c.521_521+5del
ENST00000679370.1:n.908_908+5del
ENST00000679429.1:c.513_513+5del
ENST00000679443.1:n.396_396+5del
ENST00000679782.1:c.521_521+5del
ENST00000679919.1:n.396_396+5del
ENST00000679928.1:c.521_521+5del
ENST00000680528.1:n.546_546+5del
ENST00000680999.1:c.521_521+5del
ENST00000681282.1:c.521_521+5del
ENST00000333213.10:c.521_521+5del
ENST00000578415.1:c.481_481+5del
ENST00000580013.5:n.538_538+5del
ENST00000583173.5:c.356_356+5del
ENST00000583818.1:c.416_416+5del
NM_207346.2:c.521_521+5del
XM_005257229.2:c.521_521+5del
XM_006721821.2:c.218_218+5del
XM_011524616.1:c.521_521+5del
XM_011524617.1:c.521_521+5del
XM_011524618.1:c.521_521+5del
XR_243646.2:n.551_551+5del
XM_005257229.4:c.521_521+5del
XR_243646.4:n.557_557+5del
NM_207346.3:c.521_521+5del