Canonical Allele Identifier: CA46635093

Gene: TTC7A STPG4

Linked Data

• dbSNP Id: rs567131542
• gnomAD v2: 2-47301288-CT-C
• gnomAD v3: 2-47074149-CT-C
• gnomAD v4: 2-47074149-CT-C
• MyVariant Identifiers: chr2:g.47301289del (hg19) ; chr2:g.47074150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074152del , CM000664.2:g.47074152del	GRCh38
NC_000002.11:g.47301291del , CM000664.1:g.47301291del	GRCh37
NC_000002.10:g.47154795del	NCBI36
NG_034143.1:g.163024del
NG_034143.2:g.163024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4639del (TTC7A)
ENST00000698503.1:n.2812del (TTC7A)
ENST00000319190.11:c.*229del (TTC7A) MANE Select	ENSP00000316699.5:n.*229del
ENST00000651101.1:n.1404del (TTC7A)
ENST00000651415.1:n.1597del (TTC7A)
ENST00000652236.1:n.1507del (TTC7A)
ENST00000652568.1:n.1479del (TTC7A)
ENST00000319190.9:c.*229del (TTC7A)	ENSP00000316699.5:n.*229del
ENST00000394850.6:c.*229del (TTC7A)	ENSP00000378320.2:n.*229del
ENST00000409825.5:c.2754del (TTC7A)
ENST00000422269.1:c.787-8013del
ENST00000464527.2:n.399-8013del (STPG4)
ENST00000482548.1:n.402-5594del (STPG4)
ENST00000484061.5:n.1913del (TTC7A)
ENST00000491786.5:n.2210del (TTC7A)
ENST00000496939.1:n.416-27231del (STPG4)
NM_001288951.1:c.*229del (TTC7A)	NP_001275880.1:n.*229del
NM_001288953.1:c.*229del (TTC7A)	NP_001275882.1:n.*229del
NM_001288955.1:c.*229del (TTC7A)	NP_001275884.1:n.*229del
NM_020458.3:c.*229del (TTC7A)	NP_065191.2:n.*229del
XM_005264439.2:c.*229del (TTC7A)	XP_005264496.1:n.*229del
XM_011532998.1:c.*229del (TTC7A)	XP_011531300.1:n.*229del
XM_011533000.1:c.*229del (TTC7A)	XP_011531302.1:n.*229del
XM_011533001.1:c.*229del (TTC7A)	XP_011531303.1:n.*229del
XM_005264439.4:c.*229del (TTC7A)	XP_005264496.1:n.*229del
XM_011532998.3:c.*229del (TTC7A)	XP_011531300.1:n.*229del
XM_011533000.3:c.*229del (TTC7A)	XP_011531302.1:n.*229del
XM_011533001.3:c.*229del (TTC7A)	XP_011531303.1:n.*229del
XM_017004524.1:c.*229del (TTC7A)	XP_016860013.1:n.*229del
XM_017004525.1:c.*229del (TTC7A)	XP_016860014.1:n.*229del
XM_017004526.1:c.*229del (TTC7A)	XP_016860015.1:n.*229del
XM_024453013.1:c.*229del (TTC7A)	XP_024308781.1:n.*229del
NM_020458.4:c.*229del (TTC7A) MANE Select	NP_065191.2:n.*229del
NM_001288951.2:c.*229del (TTC7A)	NP_001275880.1:n.*229del
NM_001288953.2:c.*229del (TTC7A)	NP_001275882.1:n.*229del
NM_001288955.2:c.*229del (TTC7A)	NP_001275884.1:n.*229del