Canonical Allele Identifier: CA2636259360

Gene: ZSWIM7 TTC19

Linked Data

• gnomAD v4: 17-15999510-GTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999511_15999514del , CM000679.2:g.15999511_15999514del	GRCh38
NC_000017.10:g.15902825_15902828del , CM000679.1:g.15902825_15902828del	GRCh37
NC_000017.9:g.15843550_15843553del	NCBI36
NG_029806.1:g.5132_5135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.76+5_76+8del (ZSWIM7) MANE Select	ENSP00000382218.1:n.76+5_76+8del
ENST00000261647.9:c.-338_-335del (TTC19)	ENSP00000261647.5:n.-338_-335del
ENST00000399277.5:c.76+5_76+8del (ZSWIM7)	ENSP00000382218.1:n.76+5_76+8del
ENST00000399280.6:n.35+146_35+149del (ZSWIM7)
ENST00000460252.5:c.81_84del (ZSWIM7)	ENSP00000464463.1:p.Gly28ArgfsTer?
ENST00000460315.5:c.81_84del (ZSWIM7)	ENSP00000462590.1:p.Gly28ArgfsTer?
ENST00000472495.5:c.76+5_76+8del (ZSWIM7)	ENSP00000419138.1:n.76+5_76+8del
ENST00000474716.5:c.81_84del (ZSWIM7)	ENSP00000464500.1:p.Gly28ArgfsTer?
ENST00000476496.5:c.75_78del (ZSWIM7)	ENSP00000462208.1:p.Gly26ArgfsTer?
ENST00000486655.5:c.31+5_31+8del (ZSWIM7)	ENSP00000464371.1:n.31+5_31+8del
ENST00000486706.6:c.81_84del (ZSWIM7)	ENSP00000463327.1:p.Gly28ArgfsTer?
ENST00000490395.5:c.81_84del (ZSWIM7)	ENSP00000464605.1:p.Gly28ArgfsTer?
ENST00000491631.5:c.81_84del (ZSWIM7)	ENSP00000462598.1:p.Gly28ArgfsTer?
ENST00000495825.6:n.24+146_24+149del (ZSWIM7)
ENST00000497719.5:n.54+146_54+149del (ZSWIM7)
ENST00000579955.1:c.81_84del (ZSWIM7)	ENSP00000463444.1:p.Gly28ArgfsTer3
ENST00000584519.5:c.76+5_76+8del (ZSWIM7)	ENSP00000463592.1:n.76+5_76+8del
ENST00000585208.5:c.81_84del (ZSWIM7)	ENSP00000464227.1:p.Gly28ArgfsTer?
NM_001042697.1:c.76+5_76+8del (ZSWIM7)	NP_001036162.1:n.76+5_76+8del
NM_001042698.1:c.76+5_76+8del (ZSWIM7)	NP_001036163.1:n.76+5_76+8del
NM_001271420.1:c.-796_-793del (TTC19)	NP_001258349.1:n.-796_-793del
NM_017775.3:c.-338_-335del (TTC19)	NP_060245.3:n.-338_-335del
NM_001042697.2:c.76+5_76+8del (ZSWIM7) MANE Select	NP_001036162.1:n.76+5_76+8del
NM_001042698.2:c.76+5_76+8del (ZSWIM7)	NP_001036163.1:n.76+5_76+8del