Canonical Allele Identifier: CA2636259370

Gene: ZSWIM7 TTC19

Linked Data

• gnomAD v4: 17-15999564-CCTCCACAACCGCCGGCAACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999567_15999586del , CM000679.2:g.15999567_15999586del	GRCh38
NC_000017.10:g.15902881_15902900del , CM000679.1:g.15902881_15902900del	GRCh37
NC_000017.9:g.15843606_15843625del	NCBI36
NG_029806.1:g.5188_5207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.11_30del (ZSWIM7) MANE Select	ENSP00000382218.1:p.Val4GlyfsTer18
ENST00000261647.9:c.-282_-263del (TTC19)	ENSP00000261647.5:n.-282_-263del
ENST00000399277.5:c.11_30del (ZSWIM7)	ENSP00000382218.1:p.Val4GlyfsTer18
ENST00000399280.6:n.35+76_35+95del (ZSWIM7)
ENST00000460252.5:c.11_30del (ZSWIM7)	ENSP00000464463.1:p.Val4GlyfsTer30
ENST00000460315.5:c.11_30del (ZSWIM7)	ENSP00000462590.1:p.Val4GlyfsTer30
ENST00000472495.5:c.11_30del (ZSWIM7)	ENSP00000419138.1:p.Val4GlyfsTer18
ENST00000474716.5:c.11_30del (ZSWIM7)	ENSP00000464500.1:p.Val4GlyfsTer29
ENST00000476496.5:c.5_24del (ZSWIM7)	ENSP00000462208.1:p.Val2GlyfsTer30
ENST00000486655.5:c.-35_-16del (ZSWIM7)	ENSP00000464371.1:n.-35_-16del
ENST00000486706.6:c.11_30del (ZSWIM7)	ENSP00000463327.1:p.Val4GlyfsTer29
ENST00000490395.5:c.11_30del (ZSWIM7)	ENSP00000464605.1:p.Val4GlyfsTer29
ENST00000491631.5:c.11_30del (ZSWIM7)	ENSP00000462598.1:p.Val4GlyfsTer29
ENST00000495825.6:n.24+76_24+95del (ZSWIM7)
ENST00000497719.5:n.54+76_54+95del (ZSWIM7)
ENST00000579955.1:c.11_30del (ZSWIM7)	ENSP00000463444.1:p.Val4GlyfsTer?
ENST00000584519.5:c.11_30del (ZSWIM7)	ENSP00000463592.1:p.Val4GlyfsTer?
ENST00000585208.5:c.11_30del (ZSWIM7)	ENSP00000464227.1:p.Val4GlyfsTer?
NM_001042697.1:c.11_30del (ZSWIM7)	NP_001036162.1:p.Val4GlyfsTer18
NM_001042698.1:c.11_30del (ZSWIM7)	NP_001036163.1:p.Val4GlyfsTer18
NM_001271420.1:c.-740_-721del (TTC19)	NP_001258349.1:n.-740_-721del
NM_017775.3:c.-282_-263del (TTC19)	NP_060245.3:n.-282_-263del
NM_001042697.2:c.11_30del (ZSWIM7) MANE Select	NP_001036162.1:p.Val4GlyfsTer18
NM_001042698.2:c.11_30del (ZSWIM7)	NP_001036163.1:p.Val4GlyfsTer18