Canonical Allele Identifier: CA2495644219

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074162_47074165delinsTGTG , CM000664.2:g.47074162_47074165delinsTGTG	GRCh38
NC_000002.11:g.47301301_47301304delinsTGTG , CM000664.1:g.47301301_47301304delinsTGTG	GRCh37
NC_000002.10:g.47154805_47154808delinsTGTG	NCBI36
NG_034143.1:g.163034_163037delinsTGTG
NG_034143.2:g.163034_163037delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4649_4652delinsTGTG (TTC7A)
ENST00000698503.1:n.2822_2825delinsTGTG (TTC7A)
ENST00000319190.11:c.*239_*242delinsTGTG (TTC7A) MANE Select	ENSP00000316699.5:n.*239_*242delinsTGTG
ENST00000651101.1:n.1414_1417delinsTGTG (TTC7A)
ENST00000651415.1:n.1607_1610delinsTGTG (TTC7A)
ENST00000652236.1:n.1517_1520delinsTGTG (TTC7A)
ENST00000652568.1:n.1489_1492delinsTGTG (TTC7A)
ENST00000319190.9:c.*239_*242delinsTGTG (TTC7A)	ENSP00000316699.5:n.*239_*242delinsTGTG
ENST00000394850.6:c.*239_*242delinsTGTG (TTC7A)	ENSP00000378320.2:n.*239_*242delinsTGTG
ENST00000409825.5:c.2764_2767delinsTGTG (TTC7A)
ENST00000422269.1:c.787-8028_787-8025delinsCACA
ENST00000464527.2:n.399-8028_399-8025delinsCACA (STPG4)
ENST00000482548.1:n.402-5609_402-5606delinsCACA (STPG4)
ENST00000484061.5:n.1923_1926delinsTGTG (TTC7A)
ENST00000491786.5:n.2220_2223delinsTGTG (TTC7A)
ENST00000496939.1:n.416-27246_416-27243delinsCACA (STPG4)
NM_001288951.1:c.*239_*242delinsTGTG (TTC7A)	NP_001275880.1:n.*239_*242delinsTGTG
NM_001288953.1:c.*239_*242delinsTGTG (TTC7A)	NP_001275882.1:n.*239_*242delinsTGTG
NM_001288955.1:c.*239_*242delinsTGTG (TTC7A)	NP_001275884.1:n.*239_*242delinsTGTG
NM_020458.3:c.*239_*242delinsTGTG (TTC7A)	NP_065191.2:n.*239_*242delinsTGTG
XM_005264439.2:c.*239_*242delinsTGTG (TTC7A)	XP_005264496.1:n.*239_*242delinsTGTG
XM_011532998.1:c.*239_*242delinsTGTG (TTC7A)	XP_011531300.1:n.*239_*242delinsTGTG
XM_011533000.1:c.*239_*242delinsTGTG (TTC7A)	XP_011531302.1:n.*239_*242delinsTGTG
XM_011533001.1:c.*239_*242delinsTGTG (TTC7A)	XP_011531303.1:n.*239_*242delinsTGTG
XM_005264439.4:c.*239_*242delinsTGTG (TTC7A)	XP_005264496.1:n.*239_*242delinsTGTG
XM_011532998.3:c.*239_*242delinsTGTG (TTC7A)	XP_011531300.1:n.*239_*242delinsTGTG
XM_011533000.3:c.*239_*242delinsTGTG (TTC7A)	XP_011531302.1:n.*239_*242delinsTGTG
XM_011533001.3:c.*239_*242delinsTGTG (TTC7A)	XP_011531303.1:n.*239_*242delinsTGTG
XM_017004524.1:c.*239_*242delinsTGTG (TTC7A)	XP_016860013.1:n.*239_*242delinsTGTG
XM_017004525.1:c.*239_*242delinsTGTG (TTC7A)	XP_016860014.1:n.*239_*242delinsTGTG
XM_017004526.1:c.*239_*242delinsTGTG (TTC7A)	XP_016860015.1:n.*239_*242delinsTGTG
XM_024453013.1:c.*239_*242delinsTGTG (TTC7A)	XP_024308781.1:n.*239_*242delinsTGTG
NM_020458.4:c.*239_*242delinsTGTG (TTC7A) MANE Select	NP_065191.2:n.*239_*242delinsTGTG
NM_001288951.2:c.*239_*242delinsTGTG (TTC7A)	NP_001275880.1:n.*239_*242delinsTGTG
NM_001288953.2:c.*239_*242delinsTGTG (TTC7A)	NP_001275882.1:n.*239_*242delinsTGTG
NM_001288955.2:c.*239_*242delinsTGTG (TTC7A)	NP_001275884.1:n.*239_*242delinsTGTG