Canonical Allele Identifier: CA2249814666

Gene: ZSWIM7 TTC19

Linked Data

• dbSNP Id: rs1970641008
• gnomAD v4: 17-15999523-CGCGCTCTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999526_15999535del , CM000679.2:g.15999526_15999535del	GRCh38
NC_000017.10:g.15902840_15902849del , CM000679.1:g.15902840_15902849del	GRCh37
NC_000017.9:g.15843565_15843574del	NCBI36
NG_029806.1:g.5147_5156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.62_71del (ZSWIM7) MANE Select	ENSP00000382218.1:p.Gln21ArgfsTer11
ENST00000261647.9:c.-323_-314del (TTC19)	ENSP00000261647.5:n.-323_-314del
ENST00000399277.5:c.62_71del (ZSWIM7)	ENSP00000382218.1:p.Gln21ArgfsTer11
ENST00000399280.6:n.35+127_35+136del (ZSWIM7)
ENST00000460252.5:c.62_71del (ZSWIM7)	ENSP00000464463.1:p.Gln21ArgfsTer?
ENST00000460315.5:c.62_71del (ZSWIM7)	ENSP00000462590.1:p.Gln21ArgfsTer?
ENST00000472495.5:c.62_71del (ZSWIM7)	ENSP00000419138.1:p.Gln21ArgfsTer11
ENST00000474716.5:c.62_71del (ZSWIM7)	ENSP00000464500.1:p.Gln21ArgfsTer?
ENST00000476496.5:c.56_65del (ZSWIM7)	ENSP00000462208.1:p.Gln19ArgfsTer?
ENST00000486655.5:c.17_26del (ZSWIM7)	ENSP00000464371.1:p.Gln6ArgfsTer11
ENST00000486706.6:c.62_71del (ZSWIM7)	ENSP00000463327.1:p.Gln21ArgfsTer?
ENST00000490395.5:c.62_71del (ZSWIM7)	ENSP00000464605.1:p.Gln21ArgfsTer?
ENST00000491631.5:c.62_71del (ZSWIM7)	ENSP00000462598.1:p.Gln21ArgfsTer?
ENST00000495825.6:n.24+127_24+136del (ZSWIM7)
ENST00000497719.5:n.54+127_54+136del (ZSWIM7)
ENST00000579955.1:c.62_71del (ZSWIM7)	ENSP00000463444.1:p.Gln21ArgfsTer8
ENST00000584519.5:c.62_71del (ZSWIM7)	ENSP00000463592.1:p.Gln21ArgfsTer19
ENST00000585208.5:c.62_71del (ZSWIM7)	ENSP00000464227.1:p.Gln21ArgfsTer?
NM_001042697.1:c.62_71del (ZSWIM7)	NP_001036162.1:p.Gln21ArgfsTer11
NM_001042698.1:c.62_71del (ZSWIM7)	NP_001036163.1:p.Gln21ArgfsTer11
NM_001271420.1:c.-781_-772del (TTC19)	NP_001258349.1:n.-781_-772del
NM_017775.3:c.-323_-314del (TTC19)	NP_060245.3:n.-323_-314del
NM_001042697.2:c.62_71del (ZSWIM7) MANE Select	NP_001036162.1:p.Gln21ArgfsTer11
NM_001042698.2:c.62_71del (ZSWIM7)	NP_001036163.1:p.Gln21ArgfsTer11