Canonical Allele Identifier: CA2636259368
Gene: ZSWIM7 HGNC NCBI
TTC19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999551_15999560del , CM000679.2:g.15999551_15999560del GRCh38
NC_000017.10:g.15902865_15902874del , CM000679.1:g.15902865_15902874del GRCh37
NC_000017.9:g.15843590_15843599del NCBI36
NG_029806.1:g.5172_5181del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399277.6:c.35_44del (ZSWIM7) MANE Select ENSP00000382218.1:p.Leu12ArgfsTer20
ENST00000261647.9:c.-298_-289del (TTC19) ENSP00000261647.5:n.-298_-289del
ENST00000399277.5:c.35_44del (ZSWIM7) ENSP00000382218.1:p.Leu12ArgfsTer20
ENST00000399280.6:n.35+100_35+109del (ZSWIM7)
ENST00000460252.5:c.35_44del (ZSWIM7) ENSP00000464463.1:p.Leu12ArgfsTer?
ENST00000460315.5:c.35_44del (ZSWIM7) ENSP00000462590.1:p.Leu12ArgfsTer?
ENST00000472495.5:c.35_44del (ZSWIM7) ENSP00000419138.1:p.Leu12ArgfsTer20
ENST00000474716.5:c.35_44del (ZSWIM7) ENSP00000464500.1:p.Leu12ArgfsTer?
ENST00000476496.5:c.29_38del (ZSWIM7) ENSP00000462208.1:p.Leu10ArgfsTer?
ENST00000486655.5:c.-11_-2del (ZSWIM7) ENSP00000464371.1:n.-11_-2del
ENST00000486706.6:c.35_44del (ZSWIM7) ENSP00000463327.1:p.Leu12ArgfsTer?
ENST00000490395.5:c.35_44del (ZSWIM7) ENSP00000464605.1:p.Leu12ArgfsTer?
ENST00000491631.5:c.35_44del (ZSWIM7) ENSP00000462598.1:p.Leu12ArgfsTer?
ENST00000495825.6:n.24+100_24+109del (ZSWIM7)
ENST00000497719.5:n.54+100_54+109del (ZSWIM7)
ENST00000579955.1:c.35_44del (ZSWIM7) ENSP00000463444.1:p.Leu12ArgfsTer17
ENST00000584519.5:c.35_44del (ZSWIM7) ENSP00000463592.1:p.Leu12ArgfsTer28
ENST00000585208.5:c.35_44del (ZSWIM7) ENSP00000464227.1:p.Leu12ArgfsTer?
NM_001042697.1:c.35_44del (ZSWIM7) NP_001036162.1:p.Leu12ArgfsTer20
NM_001042698.1:c.35_44del (ZSWIM7) NP_001036163.1:p.Leu12ArgfsTer20
NM_001271420.1:c.-756_-747del (TTC19) NP_001258349.1:n.-756_-747del
NM_017775.3:c.-298_-289del (TTC19) NP_060245.3:n.-298_-289del
NM_001042697.2:c.35_44del (ZSWIM7) MANE Select NP_001036162.1:p.Leu12ArgfsTer20
NM_001042698.2:c.35_44del (ZSWIM7) NP_001036163.1:p.Leu12ArgfsTer20