Canonical Allele Identifier: CA2275552633

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524460_75524462delinsGTC , CM000679.2:g.75524460_75524462delinsGTC	GRCh38
NC_000017.10:g.73520541_73520543delinsGTC , CM000679.1:g.73520541_73520543delinsGTC	GRCh37
NC_000017.9:g.71032136_71032138delinsGTC	NCBI36
NG_013041.1:g.12933_12935delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*48_*50delinsGTC MANE Select	ENSP00000327487.6:n.*48_*50delinsGTC
ENST00000434205.8:c.*48_*50delinsGTC	ENSP00000406559.4:n.*48_*50delinsGTC
ENST00000545228.3:c.*128_*130delinsGTC	ENSP00000438169.3:n.*128_*130delinsGTC
ENST00000577197.2:n.827_829delinsGTC
ENST00000579449.2:n.2369_2371delinsGTC
ENST00000580013.6:n.2773_2775delinsGTC
ENST00000679370.1:n.3151_3153delinsGTC
ENST00000679429.1:c.*1087_*1089delinsGTC	ENSP00000505403.1:n.*1087_*1089delinsGTC
ENST00000679443.1:n.1698_1700delinsGTC
ENST00000679782.1:c.*328_*330delinsGTC	ENSP00000505995.1:n.*328_*330delinsGTC
ENST00000679919.1:n.1900_1902delinsGTC
ENST00000679928.1:c.*2181_*2183delinsGTC	ENSP00000506071.1:n.*2181_*2183delinsGTC
ENST00000680999.1:c.*48_*50delinsGTC	ENSP00000504984.1:n.*48_*50delinsGTC
ENST00000681282.1:c.*1816_*1818delinsGTC	ENSP00000506339.1:n.*1816_*1818delinsGTC
ENST00000333213.10:c.*48_*50delinsGTC	ENSP00000327487.6:n.*48_*50delinsGTC
ENST00000545228.2:c.906_908delinsGTC
ENST00000577197.1:n.377_379delinsGTC
NM_207346.2:c.*48_*50delinsGTC	NP_997229.2:n.*48_*50delinsGTC
XM_005257229.2:c.*128_*130delinsGTC	XP_005257286.1:n.*128_*130delinsGTC
XM_006721821.2:c.*128_*130delinsGTC	XP_006721884.1:n.*128_*130delinsGTC
XM_011524616.1:c.*128_*130delinsGTC	XP_011522918.1:n.*128_*130delinsGTC
XM_011524618.1:c.*48_*50delinsGTC	XP_011522920.1:n.*48_*50delinsGTC
XR_243646.2:n.1861_1863delinsGTC
XM_005257229.4:c.*128_*130delinsGTC	XP_005257286.1:n.*128_*130delinsGTC
XR_243646.4:n.1867_1869delinsGTC
NM_207346.3:c.*48_*50delinsGTC MANE Select	NP_997229.2:n.*48_*50delinsGTC