Canonical Allele Identifier: CA775078763

Gene: TSEN54

Linked Data

• dbSNP Id: rs1160892825
• MyVariant Identifiers: chr17:g.73520756_73520757del (hg19) ; chr17:g.75524675_75524676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524675_75524676del , CM000679.2:g.75524675_75524676del	GRCh38
NC_000017.10:g.73520756_73520757del , CM000679.1:g.73520756_73520757del	GRCh37
NC_000017.9:g.71032351_71032352del	NCBI36
NG_013041.1:g.13148_13149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*263_*264del MANE Select	ENSP00000327487.6:n.*263_*264del
ENST00000434205.8:c.*263_*264del	ENSP00000406559.4:n.*263_*264del
ENST00000545228.3:c.*343_*344del	ENSP00000438169.3:n.*343_*344del
ENST00000577197.2:n.1042_1043del
ENST00000579449.2:n.2584_2585del
ENST00000580013.6:n.2988_2989del
ENST00000679370.1:n.3366_3367del
ENST00000679429.1:c.*1302_*1303del	ENSP00000505403.1:n.*1302_*1303del
ENST00000679443.1:n.1913_1914del
ENST00000679782.1:c.*543_*544del	ENSP00000505995.1:n.*543_*544del
ENST00000679919.1:n.2115_2116del
ENST00000679928.1:c.*2396_*2397del	ENSP00000506071.1:n.*2396_*2397del
ENST00000680999.1:c.*263_*264del	ENSP00000504984.1:n.*263_*264del
ENST00000681282.1:c.*2031_*2032del	ENSP00000506339.1:n.*2031_*2032del
ENST00000333213.10:c.*263_*264del	ENSP00000327487.6:n.*263_*264del
ENST00000545228.2:c.1121_1122del
ENST00000577197.1:n.592_593del
NM_207346.2:c.*263_*264del	NP_997229.2:n.*263_*264del
XM_005257229.2:c.*343_*344del	XP_005257286.1:n.*343_*344del
XM_006721821.2:c.*343_*344del	XP_006721884.1:n.*343_*344del
XM_011524616.1:c.*343_*344del	XP_011522918.1:n.*343_*344del
XM_011524618.1:c.*263_*264del	XP_011522920.1:n.*263_*264del
XR_243646.2:n.2076_2077del
XM_005257229.4:c.*343_*344del	XP_005257286.1:n.*343_*344del
XR_243646.4:n.2082_2083del
NM_207346.3:c.*263_*264del MANE Select	NP_997229.2:n.*263_*264del