Canonical Allele Identifier: CA2639828612

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522061-TGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522062_75522064del , CM000679.2:g.75522062_75522064del	GRCh38
NC_000017.10:g.73518143_73518145del , CM000679.1:g.73518143_73518145del	GRCh37
NC_000017.9:g.71029738_71029740del	NCBI36
NG_013041.1:g.10535_10537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.981_983del MANE Select	ENSP00000327487.6:p.Ala328del
ENST00000434205.8:c.678_680del	ENSP00000406559.4:p.Ala227del
ENST00000545228.3:c.981_983del	ENSP00000438169.3:p.Ala328del
ENST00000579449.2:n.780_782del
ENST00000580013.6:n.1184_1186del
ENST00000679370.1:n.1562_1564del
ENST00000679429.1:c.*439_*441del	ENSP00000505403.1:n.*439_*441del
ENST00000679443.1:n.1050_1052del
ENST00000679782.1:c.981_983del	ENSP00000505995.1:p.Ala328del
ENST00000679919.1:n.1050_1052del
ENST00000679928.1:c.*592_*594del	ENSP00000506071.1:n.*592_*594del
ENST00000680528.1:n.1006_1008del
ENST00000680999.1:c.981_983del	ENSP00000504984.1:p.Ala328del
ENST00000681282.1:c.*227_*229del	ENSP00000506339.1:n.*227_*229del
ENST00000333213.10:c.981_983del	ENSP00000327487.6:p.Ala328del
ENST00000545228.2:c.70_72del
ENST00000578415.1:c.941_943del
ENST00000583173.5:c.514_516del	ENSP00000463619.1:p.Gly172del
NM_207346.2:c.981_983del	NP_997229.2:p.Ala328del
XM_005257229.2:c.981_983del	XP_005257286.1:p.Ala328del
XM_006721821.2:c.678_680del	XP_006721884.1:p.Ala227del
XM_011524616.1:c.981_983del	XP_011522918.1:p.Ala328del
XM_011524617.1:c.981_983del	XP_011522919.1:p.Ala328del
XM_011524618.1:c.981_983del	XP_011522920.1:p.Ala328del
XR_243646.2:n.1011_1013del
XM_005257229.4:c.981_983del	XP_005257286.1:p.Ala328del
XR_243646.4:n.1017_1019del
NM_207346.3:c.981_983del MANE Select	NP_997229.2:p.Ala328del