Canonical Allele Identifier: CA2636259273

Gene: ZSWIM7 TTC19

Linked Data

• gnomAD v4: 17-15999414-GGCAGGGCCAGGCCCGGACACCCCGCCTCCTGCCTCCCGGCCCGGCGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999417_15999464del , CM000679.2:g.15999417_15999464del	GRCh38
NC_000017.10:g.15902731_15902778del , CM000679.1:g.15902731_15902778del	GRCh37
NC_000017.9:g.15843456_15843503del	NCBI36
NG_029806.1:g.5038_5085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399277.6:c.76+57_76+104del (ZSWIM7) MANE Select	ENSP00000382218.1:n.76+57_76+104del
ENST00000261647.9:c.-432_-385del (TTC19)	ENSP00000261647.5:n.-432_-385del
ENST00000399277.5:c.76+57_76+104del (ZSWIM7)	ENSP00000382218.1:n.76+57_76+104del
ENST00000399280.6:n.35+198_35+245del (ZSWIM7)
ENST00000460252.5:c.92+41_92+88del (ZSWIM7)	ENSP00000464463.1:n.92+41_92+88del
ENST00000460315.5:c.92+41_92+88del (ZSWIM7)	ENSP00000462590.1:n.92+41_92+88del
ENST00000472495.5:c.76+57_76+104del (ZSWIM7)	ENSP00000419138.1:n.76+57_76+104del
ENST00000474716.5:c.89+44_89+91del (ZSWIM7)	ENSP00000464500.1:n.89+44_89+91del
ENST00000476496.5:c.86+41_86+88del (ZSWIM7)	ENSP00000462208.1:n.86+41_86+88del
ENST00000486655.5:c.31+57_31+104del (ZSWIM7)	ENSP00000464371.1:n.31+57_31+104del
ENST00000486706.6:c.89+44_89+91del (ZSWIM7)	ENSP00000463327.1:n.89+44_89+91del
ENST00000490395.5:c.89+44_89+91del (ZSWIM7)	ENSP00000464605.1:n.89+44_89+91del
ENST00000491631.5:c.89+44_89+91del (ZSWIM7)	ENSP00000462598.1:n.89+44_89+91del
ENST00000495825.6:n.24+198_24+245del (ZSWIM7)
ENST00000497719.5:n.54+198_54+245del (ZSWIM7)
ENST00000579955.1:c.89+44_89+91del (ZSWIM7)	ENSP00000463444.1:n.89+44_89+91del
ENST00000584519.5:c.76+57_76+104del (ZSWIM7)	ENSP00000463592.1:n.76+57_76+104del
ENST00000585208.5:c.89+44_89+91del (ZSWIM7)	ENSP00000464227.1:n.89+44_89+91del
NM_001042697.1:c.76+57_76+104del (ZSWIM7)	NP_001036162.1:n.76+57_76+104del
NM_001042698.1:c.76+57_76+104del (ZSWIM7)	NP_001036163.1:n.76+57_76+104del
NM_001271420.1:c.-890_-843del (TTC19)	NP_001258349.1:n.-890_-843del
NM_017775.3:c.-432_-385del (TTC19)	NP_060245.3:n.-432_-385del
NM_001042697.2:c.76+57_76+104del (ZSWIM7) MANE Select	NP_001036162.1:n.76+57_76+104del
NM_001042698.2:c.76+57_76+104del (ZSWIM7)	NP_001036163.1:n.76+57_76+104del