Canonical Allele Identifier: CA2597352560

Gene: TTC7A STPG4

Linked Data

• gnomAD v3: 2-47073624-ACCTGTGCTTGGCCCAGTTGCCAAGATGCCTGTGCCATGGGACACCCCTACTCACCCTGC-A
• gnomAD v4: 2-47073624-ACCTGTGCTTGGCCCAGTTGCCAAGATGCCTGTGCCATGGGACACCCCTACTCACCCTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073634_47073692del , CM000664.2:g.47073634_47073692del	GRCh38
NC_000002.11:g.47300773_47300831del , CM000664.1:g.47300773_47300831del	GRCh37
NC_000002.10:g.47154277_47154335del	NCBI36
NG_034143.1:g.162506_162564del
NG_034143.2:g.162506_162564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4189-68_4189-10del (TTC7A)
ENST00000698503.1:n.2362-68_2362-10del (TTC7A)
ENST00000698504.1:n.437-68_437-10del (TTC7A)
ENST00000319190.11:c.2356-68_2356-10del (TTC7A) MANE Select	ENSP00000316699.5:n.2356-68_2356-10del
ENST00000651101.1:n.954-68_954-10del (TTC7A)
ENST00000651415.1:n.1147-68_1147-10del (TTC7A)
ENST00000652236.1:n.1057-68_1057-10del (TTC7A)
ENST00000652568.1:n.1029-68_1029-10del (TTC7A)
ENST00000319190.9:c.2356-68_2356-10del (TTC7A)	ENSP00000316699.5:n.2356-68_2356-10del
ENST00000394850.6:c.2428-68_2428-10del (TTC7A)	ENSP00000378320.2:n.2428-68_2428-10del
ENST00000409245.5:c.2254-68_2254-10del (TTC7A)	ENSP00000386307.1:n.2254-68_2254-10del
ENST00000409825.5:c.2304-68_2304-10del (TTC7A)
ENST00000422269.1:c.787-7546_787-7488del
ENST00000441914.5:c.2197-68_2197-10del (TTC7A)
ENST00000464527.2:n.399-7546_399-7488del (STPG4)
ENST00000482548.1:n.402-5127_402-5069del (STPG4)
ENST00000484061.5:n.1463-68_1463-10del (TTC7A)
ENST00000491786.5:n.1760-68_1760-10del (TTC7A)
ENST00000496939.1:n.416-26764_416-26706del (STPG4)
NM_001288951.1:c.2428-68_2428-10del (TTC7A)	NP_001275880.1:n.2428-68_2428-10del
NM_001288953.1:c.2254-68_2254-10del (TTC7A)	NP_001275882.1:n.2254-68_2254-10del
NM_001288955.1:c.1294-68_1294-10del (TTC7A)	NP_001275884.1:n.1294-68_1294-10del
NM_020458.3:c.2356-68_2356-10del (TTC7A)	NP_065191.2:n.2356-68_2356-10del
XM_005264439.2:c.1999-68_1999-10del (TTC7A)	XP_005264496.1:n.1999-68_1999-10del
XM_011532998.1:c.1999-68_1999-10del (TTC7A)	XP_011531300.1:n.1999-68_1999-10del
XM_011533000.1:c.1576-68_1576-10del (TTC7A)	XP_011531302.1:n.1576-68_1576-10del
XM_011533001.1:c.1309-68_1309-10del (TTC7A)	XP_011531303.1:n.1309-68_1309-10del
XM_005264439.4:c.1999-68_1999-10del (TTC7A)	XP_005264496.1:n.1999-68_1999-10del
XM_011532998.3:c.1999-68_1999-10del (TTC7A)	XP_011531300.1:n.1999-68_1999-10del
XM_011533000.3:c.1576-68_1576-10del (TTC7A)	XP_011531302.1:n.1576-68_1576-10del
XM_011533001.3:c.1309-68_1309-10del (TTC7A)	XP_011531303.1:n.1309-68_1309-10del
XM_017004524.1:c.2239-68_2239-10del (TTC7A)	XP_016860013.1:n.2239-68_2239-10del
XM_017004525.1:c.2188-68_2188-10del (TTC7A)	XP_016860014.1:n.2188-68_2188-10del
XM_017004526.1:c.2107-68_2107-10del (TTC7A)	XP_016860015.1:n.2107-68_2107-10del
XM_024453013.1:c.1321-68_1321-10del (TTC7A)	XP_024308781.1:n.1321-68_1321-10del
NM_020458.4:c.2356-68_2356-10del (TTC7A) MANE Select	NP_065191.2:n.2356-68_2356-10del
NM_001288951.2:c.2428-68_2428-10del (TTC7A)	NP_001275880.1:n.2428-68_2428-10del
NM_001288953.2:c.2254-68_2254-10del (TTC7A)	NP_001275882.1:n.2254-68_2254-10del
NM_001288955.2:c.1294-68_1294-10del (TTC7A)	NP_001275884.1:n.1294-68_1294-10del