Canonical Allele Identifier: CA8407189

Gene: ZSWIM7 TTC19

Linked Data

• dbSNP Id: rs765534138
• ExAC: 17:15902989 A / AC
• gnomAD v2: 17-15902989-A-AC
• gnomAD v3: 17-15999675-A-AC
• gnomAD v4: 17-15999675-A-AC
• COSMIC: COSM303471
• MyVariant Identifiers: chr17:g.15902990_15902991insC (hg19) ; chr17:g.15902989_15902990insC (hg19) ; chr17:g.15999675_15999676insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999681dup , CM000679.2:g.15999681dup	GRCh38
NC_000017.10:g.15902995dup , CM000679.1:g.15902995dup	GRCh37
NC_000017.9:g.15843720dup	NCBI36
NG_029806.1:g.5302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.-82dup (ZSWIM7) MANE Select	ENSP00000382218.1:n.-82dup
ENST00000261647.9:c.-168dup (TTC19)	ENSP00000261647.5:n.-168dup
ENST00000399277.5:c.-82dup (ZSWIM7)	ENSP00000382218.1:n.-82dup
ENST00000399280.6:n.19dup (ZSWIM7)
ENST00000460252.5:c.-82dup (ZSWIM7)	ENSP00000464463.1:n.-82dup
ENST00000460315.5:c.-82dup (ZSWIM7)	ENSP00000462590.1:n.-82dup
ENST00000472495.5:c.-82dup (ZSWIM7)	ENSP00000419138.1:n.-82dup
ENST00000491631.5:c.-82dup (ZSWIM7)	ENSP00000462598.1:n.-82dup
ENST00000495825.6:n.8dup (ZSWIM7)
ENST00000497719.5:n.38dup (ZSWIM7)
ENST00000579955.1:c.-82dup (ZSWIM7)	ENSP00000463444.1:n.-82dup
NM_001042697.1:c.-82dup (ZSWIM7)	NP_001036162.1:n.-82dup
NM_001042698.1:c.-82dup (ZSWIM7)	NP_001036163.1:n.-82dup
NM_001271420.1:c.-626dup (TTC19)	NP_001258349.1:n.-626dup
NM_017775.3:c.-168dup (TTC19)	NP_060245.3:n.-168dup
NM_001042697.2:c.-82dup (ZSWIM7) MANE Select	NP_001036162.1:n.-82dup
NM_001042698.2:c.-82dup (ZSWIM7)	NP_001036163.1:n.-82dup