Canonical Allele Identifier: CA769427748

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs1231939579
• gnomAD v4: 2-47074153-GGA-G
• MyVariant Identifiers: chr2:g.47301293_47301294del (hg19) ; chr2:g.47074154_47074155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074157_47074158del , CM000664.2:g.47074157_47074158del	GRCh38
NC_000002.11:g.47301296_47301297del , CM000664.1:g.47301296_47301297del	GRCh37
NC_000002.10:g.47154800_47154801del	NCBI36
NG_034143.1:g.163029_163030del
NG_034143.2:g.163029_163030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4644_4645del (TTC7A)
ENST00000698503.1:n.2817_2818del (TTC7A)
ENST00000319190.11:c.*234_*235del (TTC7A) MANE Select	ENSP00000316699.5:n.*234_*235del
ENST00000651101.1:n.1409_1410del (TTC7A)
ENST00000651415.1:n.1602_1603del (TTC7A)
ENST00000652236.1:n.1512_1513del (TTC7A)
ENST00000652568.1:n.1484_1485del (TTC7A)
ENST00000319190.9:c.*234_*235del (TTC7A)	ENSP00000316699.5:n.*234_*235del
ENST00000394850.6:c.*234_*235del (TTC7A)	ENSP00000378320.2:n.*234_*235del
ENST00000409825.5:c.2759_2760del (TTC7A)
ENST00000422269.1:c.787-8018_787-8017del
ENST00000464527.2:n.399-8018_399-8017del (STPG4)
ENST00000482548.1:n.402-5599_402-5598del (STPG4)
ENST00000484061.5:n.1918_1919del (TTC7A)
ENST00000491786.5:n.2215_2216del (TTC7A)
ENST00000496939.1:n.416-27236_416-27235del (STPG4)
NM_001288951.1:c.*234_*235del (TTC7A)	NP_001275880.1:n.*234_*235del
NM_001288953.1:c.*234_*235del (TTC7A)	NP_001275882.1:n.*234_*235del
NM_001288955.1:c.*234_*235del (TTC7A)	NP_001275884.1:n.*234_*235del
NM_020458.3:c.*234_*235del (TTC7A)	NP_065191.2:n.*234_*235del
XM_005264439.2:c.*234_*235del (TTC7A)	XP_005264496.1:n.*234_*235del
XM_011532998.1:c.*234_*235del (TTC7A)	XP_011531300.1:n.*234_*235del
XM_011533000.1:c.*234_*235del (TTC7A)	XP_011531302.1:n.*234_*235del
XM_011533001.1:c.*234_*235del (TTC7A)	XP_011531303.1:n.*234_*235del
XM_005264439.4:c.*234_*235del (TTC7A)	XP_005264496.1:n.*234_*235del
XM_011532998.3:c.*234_*235del (TTC7A)	XP_011531300.1:n.*234_*235del
XM_011533000.3:c.*234_*235del (TTC7A)	XP_011531302.1:n.*234_*235del
XM_011533001.3:c.*234_*235del (TTC7A)	XP_011531303.1:n.*234_*235del
XM_017004524.1:c.*234_*235del (TTC7A)	XP_016860013.1:n.*234_*235del
XM_017004525.1:c.*234_*235del (TTC7A)	XP_016860014.1:n.*234_*235del
XM_017004526.1:c.*234_*235del (TTC7A)	XP_016860015.1:n.*234_*235del
XM_024453013.1:c.*234_*235del (TTC7A)	XP_024308781.1:n.*234_*235del
NM_020458.4:c.*234_*235del (TTC7A) MANE Select	NP_065191.2:n.*234_*235del
NM_001288951.2:c.*234_*235del (TTC7A)	NP_001275880.1:n.*234_*235del
NM_001288953.2:c.*234_*235del (TTC7A)	NP_001275882.1:n.*234_*235del
NM_001288955.2:c.*234_*235del (TTC7A)	NP_001275884.1:n.*234_*235del