Canonical Allele Identifier: CA2249814661
Gene: ZSWIM7 HGNC NCBI
TTC19 HGNC NCBI

Linked Data

dbSNP Id: rs1970640701

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999526_15999527dup , CM000679.2:g.15999526_15999527dup GRCh38
NC_000017.10:g.15902840_15902841dup , CM000679.1:g.15902840_15902841dup GRCh37
NC_000017.9:g.15843565_15843566dup NCBI36
NG_029806.1:g.5147_5148dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000399277.6:c.73_74dup (ZSWIM7) MANE Select ENSP00000382218.1:p.Ile26GlufsTer10
ENST00000261647.9:c.-323_-322dup (TTC19) ENSP00000261647.5:n.-323_-322dup
ENST00000399277.5:c.73_74dup (ZSWIM7) ENSP00000382218.1:p.Ile26GlufsTer10
ENST00000399280.6:n.35+138_35+139dup (ZSWIM7)
ENST00000460252.5:c.73_74dup (ZSWIM7) ENSP00000464463.1:p.Ser26GlufsTer?
ENST00000460315.5:c.73_74dup (ZSWIM7) ENSP00000462590.1:p.Ser26GlufsTer?
ENST00000472495.5:c.73_74dup (ZSWIM7) ENSP00000419138.1:p.Ile26GlufsTer10
ENST00000474716.5:c.73_74dup (ZSWIM7) ENSP00000464500.1:p.Ser26GlufsTer?
ENST00000476496.5:c.67_68dup (ZSWIM7) ENSP00000462208.1:p.Ser24GlufsTer?
ENST00000486655.5:c.28_29dup (ZSWIM7) ENSP00000464371.1:p.Ile11GlufsTer10
ENST00000486706.6:c.73_74dup (ZSWIM7) ENSP00000463327.1:p.Ser26GlufsTer?
ENST00000490395.5:c.73_74dup (ZSWIM7) ENSP00000464605.1:p.Ser26GlufsTer?
ENST00000491631.5:c.73_74dup (ZSWIM7) ENSP00000462598.1:p.Ser26GlufsTer?
ENST00000495825.6:n.24+138_24+139dup (ZSWIM7)
ENST00000497719.5:n.54+138_54+139dup (ZSWIM7)
ENST00000579955.1:c.73_74dup (ZSWIM7) ENSP00000463444.1:p.Ser26GlufsTer7
ENST00000584519.5:c.73_74dup (ZSWIM7) ENSP00000463592.1:p.Ser26GlufsTer18
ENST00000585208.5:c.73_74dup (ZSWIM7) ENSP00000464227.1:p.Ser26GlufsTer?
NM_001042697.1:c.73_74dup (ZSWIM7) NP_001036162.1:p.Ile26GlufsTer10
NM_001042698.1:c.73_74dup (ZSWIM7) NP_001036163.1:p.Ile26GlufsTer10
NM_001271420.1:c.-781_-780dup (TTC19) NP_001258349.1:n.-781_-780dup
NM_017775.3:c.-323_-322dup (TTC19) NP_060245.3:n.-323_-322dup
NM_001042697.2:c.73_74dup (ZSWIM7) MANE Select NP_001036162.1:p.Ile26GlufsTer10
NM_001042698.2:c.73_74dup (ZSWIM7) NP_001036163.1:p.Ile26GlufsTer10