Canonical Allele Identifier: CA2639834385

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75523582-CTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75523586_75523588del , CM000679.2:g.75523586_75523588del	GRCh38
NC_000017.10:g.73519667_73519669del , CM000679.1:g.73519667_73519669del	GRCh37
NC_000017.9:g.71031262_71031264del	NCBI36
NG_013041.1:g.12059_12061del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.1314-77_1314-75del MANE Select	ENSP00000327487.6:n.1314-77_1314-75del
ENST00000434205.8:c.1011-77_1011-75del	ENSP00000406559.4:n.1011-77_1011-75del
ENST00000545228.3:c.1502-77_1502-75del	ENSP00000438169.3:n.1502-77_1502-75del
ENST00000577197.2:n.435_437del
ENST00000579449.2:n.2054-77_2054-75del
ENST00000580013.6:n.2458-77_2458-75del
ENST00000679370.1:n.2836-77_2836-75del
ENST00000679429.1:c.*772-77_*772-75del	ENSP00000505403.1:n.*772-77_*772-75del
ENST00000679443.1:n.1383-77_1383-75del
ENST00000679782.1:c.*13-77_*13-75del	ENSP00000505995.1:n.*13-77_*13-75del
ENST00000679919.1:n.1585-77_1585-75del
ENST00000679928.1:c.*1866-77_*1866-75del	ENSP00000506071.1:n.*1866-77_*1866-75del
ENST00000680528.1:n.2280-77_2280-75del
ENST00000680999.1:c.1527-77_1527-75del	ENSP00000504984.1:n.1527-77_1527-75del
ENST00000681282.1:c.*1501-77_*1501-75del	ENSP00000506339.1:n.*1501-77_*1501-75del
ENST00000333213.10:c.1314-77_1314-75del	ENSP00000327487.6:n.1314-77_1314-75del
ENST00000545228.2:c.591-77_591-75del
ENST00000579449.1:n.511-77_511-75del
NM_207346.2:c.1314-77_1314-75del	NP_997229.2:n.1314-77_1314-75del
XM_005257229.2:c.1502-77_1502-75del	XP_005257286.1:n.1502-77_1502-75del
XM_006721821.2:c.1199-77_1199-75del	XP_006721884.1:n.1199-77_1199-75del
XM_011524616.1:c.1501+251_1501+253del	XP_011522918.1:n.1501+251_1501+253del
XM_011524617.1:c.*12+251_*12+253del	XP_011522919.1:n.*12+251_*12+253del
XM_011524618.1:c.1313+251_1313+253del	XP_011522920.1:n.1313+251_1313+253del
XR_243646.2:n.1546-77_1546-75del
XM_005257229.4:c.1502-77_1502-75del	XP_005257286.1:n.1502-77_1502-75del
XR_001753015.1:n.88-217_88-215del
XR_001753016.1:n.89-181_89-179del
XR_243646.4:n.1552-77_1552-75del
NM_207346.3:c.1314-77_1314-75del MANE Select	NP_997229.2:n.1314-77_1314-75del