Canonical Allele Identifier: CA627406661

Gene: TSEN54

Linked Data

• dbSNP Id: rs1371315324
• gnomAD v2: 17-73520581-GACTCTA-G
• gnomAD v4: 17-75524500-GACTCTA-G
• MyVariant Identifiers: chr17:g.73520582_73520587del (hg19) ; chr17:g.75524501_75524506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524503_75524508del , CM000679.2:g.75524503_75524508del	GRCh38
NC_000017.10:g.73520584_73520589del , CM000679.1:g.73520584_73520589del	GRCh37
NC_000017.9:g.71032179_71032184del	NCBI36
NG_013041.1:g.12976_12981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*91_*96del MANE Select	ENSP00000327487.6:n.*91_*96del
ENST00000434205.8:c.*91_*96del	ENSP00000406559.4:n.*91_*96del
ENST00000545228.3:c.*171_*176del	ENSP00000438169.3:n.*171_*176del
ENST00000577197.2:n.870_875del
ENST00000579449.2:n.2412_2417del
ENST00000580013.6:n.2816_2821del
ENST00000679370.1:n.3194_3199del
ENST00000679429.1:c.*1130_*1135del	ENSP00000505403.1:n.*1130_*1135del
ENST00000679443.1:n.1741_1746del
ENST00000679782.1:c.*371_*376del	ENSP00000505995.1:n.*371_*376del
ENST00000679919.1:n.1943_1948del
ENST00000679928.1:c.*2224_*2229del	ENSP00000506071.1:n.*2224_*2229del
ENST00000680999.1:c.*91_*96del	ENSP00000504984.1:n.*91_*96del
ENST00000681282.1:c.*1859_*1864del	ENSP00000506339.1:n.*1859_*1864del
ENST00000333213.10:c.*91_*96del	ENSP00000327487.6:n.*91_*96del
ENST00000545228.2:c.949_954del
ENST00000577197.1:n.420_425del
NM_207346.2:c.*91_*96del	NP_997229.2:n.*91_*96del
XM_005257229.2:c.*171_*176del	XP_005257286.1:n.*171_*176del
XM_006721821.2:c.*171_*176del	XP_006721884.1:n.*171_*176del
XM_011524616.1:c.*171_*176del	XP_011522918.1:n.*171_*176del
XM_011524618.1:c.*91_*96del	XP_011522920.1:n.*91_*96del
XR_243646.2:n.1904_1909del
XM_005257229.4:c.*171_*176del	XP_005257286.1:n.*171_*176del
XR_243646.4:n.1910_1915del
NM_207346.3:c.*91_*96del MANE Select	NP_997229.2:n.*91_*96del