Canonical Allele Identifier: CA346717365

Gene: TTC7A STPG4

Linked Data

• MyVariant Identifiers: chr2:g.47073715_47073717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073716_47073718del , CM000664.2:g.47073716_47073718del	GRCh38
NC_000002.11:g.47300855_47300857del , CM000664.1:g.47300855_47300857del	GRCh37
NC_000002.10:g.47154359_47154361del	NCBI36
NG_034143.1:g.162588_162590del
NG_034143.2:g.162588_162590del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4203_4205del (TTC7A)
ENST00000698503.1:n.2376_2378del (TTC7A)
ENST00000698504.1:n.451_453del (TTC7A)
ENST00000319190.11:c.2370_2372del (TTC7A) MANE Select	ENSP00000316699.5:p.Ser790del
ENST00000651101.1:n.968_970del (TTC7A)
ENST00000651415.1:n.1161_1163del (TTC7A)
ENST00000652236.1:n.1071_1073del (TTC7A)
ENST00000652568.1:n.1043_1045del (TTC7A)
ENST00000319190.9:c.2370_2372del (TTC7A)	ENSP00000316699.5:p.Ser790del
ENST00000394850.6:c.2442_2444del (TTC7A)	ENSP00000378320.2:p.Ser814del
ENST00000409245.5:c.2268_2270del (TTC7A)	ENSP00000386307.1:p.Ser756del
ENST00000409825.5:c.2318_2320del (TTC7A)
ENST00000422269.1:c.787-7580_787-7578del
ENST00000441914.5:c.2211_2213del (TTC7A)
ENST00000464527.2:n.399-7580_399-7578del (STPG4)
ENST00000482548.1:n.402-5161_402-5159del (STPG4)
ENST00000484061.5:n.1477_1479del (TTC7A)
ENST00000491786.5:n.1774_1776del (TTC7A)
ENST00000496939.1:n.416-26798_416-26796del (STPG4)
NM_001288951.1:c.2442_2444del (TTC7A)	NP_001275880.1:p.Ser814del
NM_001288953.1:c.2268_2270del (TTC7A)	NP_001275882.1:p.Ser756del
NM_001288955.1:c.1308_1310del (TTC7A)	NP_001275884.1:p.Ser436del
NM_020458.3:c.2370_2372del (TTC7A)	NP_065191.2:p.Ser790del
XM_005264439.2:c.2013_2015del (TTC7A)	XP_005264496.1:p.Ser671del
XM_011532998.1:c.2013_2015del (TTC7A)	XP_011531300.1:p.Ser671del
XM_011533000.1:c.1590_1592del (TTC7A)	XP_011531302.1:p.Ser530del
XM_011533001.1:c.1323_1325del (TTC7A)	XP_011531303.1:p.Ser441del
XM_005264439.4:c.2013_2015del (TTC7A)	XP_005264496.1:p.Ser671del
XM_011532998.3:c.2013_2015del (TTC7A)	XP_011531300.1:p.Ser671del
XM_011533000.3:c.1590_1592del (TTC7A)	XP_011531302.1:p.Ser530del
XM_011533001.3:c.1323_1325del (TTC7A)	XP_011531303.1:p.Ser441del
XM_017004524.1:c.2253_2255del (TTC7A)	XP_016860013.1:p.Ser751del
XM_017004525.1:c.2202_2204del (TTC7A)	XP_016860014.1:p.Ser734del
XM_017004526.1:c.2121_2123del (TTC7A)	XP_016860015.1:p.Ser707del
XM_024453013.1:c.1335_1337del (TTC7A)	XP_024308781.1:p.Ser445del
NM_020458.4:c.2370_2372del (TTC7A) MANE Select	NP_065191.2:p.Ser790del
NM_001288951.2:c.2442_2444del (TTC7A)	NP_001275880.1:p.Ser814del
NM_001288953.2:c.2268_2270del (TTC7A)	NP_001275882.1:p.Ser756del
NM_001288955.2:c.1308_1310del (TTC7A)	NP_001275884.1:p.Ser436del