Canonical Allele Identifier: CA46621960

Gene: TTC7A

Linked Data

• dbSNP Id: rs201758168
• gnomAD v2: 2-47230120-GTGC-G
• gnomAD v3: 2-47002981-GTGC-G
• gnomAD v4: 2-47002981-GTGC-G
• MyVariant Identifiers: chr2:g.47230121_47230123del (hg19) ; chr2:g.47002982_47002984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002994_47002996del , CM000664.2:g.47002994_47002996del	GRCh38
NC_000002.11:g.47230133_47230135del , CM000664.1:g.47230133_47230135del	GRCh37
NC_000002.10:g.47083637_47083639del	NCBI36
NG_034143.1:g.91866_91868del
NG_034143.2:g.91866_91868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-2928_2899-2926del
ENST00000319190.11:c.1066-2928_1066-2926del MANE Select	ENSP00000316699.5:n.1066-2928_1066-2926del
ENST00000319190.9:c.1066-2928_1066-2926del	ENSP00000316699.5:n.1066-2928_1066-2926del
ENST00000394850.6:c.1066-2928_1066-2926del	ENSP00000378320.2:n.1066-2928_1066-2926del
ENST00000409245.5:c.964-2928_964-2926del	ENSP00000386307.1:n.964-2928_964-2926del
ENST00000409825.5:c.1014-2928_1014-2926del
ENST00000441914.5:c.907-2928_907-2926del
ENST00000461601.5:n.1391-2928_1391-2926del
ENST00000474321.6:n.550-2928_550-2926del
ENST00000484061.5:n.349-2928_349-2926del
ENST00000491786.5:n.470-2928_470-2926del
NM_001288951.1:c.1066-2928_1066-2926del	NP_001275880.1:n.1066-2928_1066-2926del
NM_001288953.1:c.964-2928_964-2926del	NP_001275882.1:n.964-2928_964-2926del
NM_001288955.1:c.4-2928_4-2926del	NP_001275884.1:n.4-2928_4-2926del
NM_020458.3:c.1066-2928_1066-2926del	NP_065191.2:n.1066-2928_1066-2926del
XM_005264439.2:c.709-2928_709-2926del	XP_005264496.1:n.709-2928_709-2926del
XM_011532998.1:c.709-2928_709-2926del	XP_011531300.1:n.709-2928_709-2926del
XM_011532999.1:c.1066-2928_1066-2926del	XP_011531301.1:n.1066-2928_1066-2926del
XM_011533000.1:c.286-2928_286-2926del	XP_011531302.1:n.286-2928_286-2926del
XR_939696.1:n.1371-2928_1371-2926del
XM_005264439.4:c.709-2928_709-2926del	XP_005264496.1:n.709-2928_709-2926del
XM_011532998.3:c.709-2928_709-2926del	XP_011531300.1:n.709-2928_709-2926del
XM_011532999.2:c.1066-2928_1066-2926del	XP_011531301.1:n.1066-2928_1066-2926del
XM_011533000.3:c.286-2928_286-2926del	XP_011531302.1:n.286-2928_286-2926del
XM_017004524.1:c.1066-2928_1066-2926del	XP_016860013.1:n.1066-2928_1066-2926del
XM_017004525.1:c.898-2928_898-2926del	XP_016860014.1:n.898-2928_898-2926del
XM_017004526.1:c.1066-2928_1066-2926del	XP_016860015.1:n.1066-2928_1066-2926del
XM_017004529.1:c.1066-2928_1066-2926del	XP_016860018.1:n.1066-2928_1066-2926del
XM_024453013.1:c.31-2928_31-2926del	XP_024308781.1:n.31-2928_31-2926del
XR_001738853.2:n.1378-2928_1378-2926del
XR_001738854.1:n.1377-2928_1377-2926del
NM_020458.4:c.1066-2928_1066-2926del MANE Select	NP_065191.2:n.1066-2928_1066-2926del
NM_001288951.2:c.1066-2928_1066-2926del	NP_001275880.1:n.1066-2928_1066-2926del
NM_001288953.2:c.964-2928_964-2926del	NP_001275882.1:n.964-2928_964-2926del
NM_001288955.2:c.4-2928_4-2926del	NP_001275884.1:n.4-2928_4-2926del