Canonical Allele Identifier: CA2499215971

Gene: TTC7A

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46975020del , CM000664.2:g.46975020del	GRCh38
NC_000002.11:g.47202159del , CM000664.1:g.47202159del	GRCh37
NC_000002.10:g.47055663del	NCBI36
NG_034143.1:g.63892del
NG_034143.2:g.63892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.1570del
ENST00000319190.11:c.565del MANE Select	ENSP00000316699.5:p.Leu189Ter
ENST00000319190.9:c.565del	ENSP00000316699.5:p.Leu189Ter
ENST00000394850.6:c.565del	ENSP00000378320.2:p.Leu189Ter
ENST00000409245.5:c.463del	ENSP00000386307.1:p.Leu155Ter
ENST00000409825.5:c.513del
ENST00000441914.5:c.564del
ENST00000461601.5:n.890del
NM_001288951.1:c.565del	NP_001275880.1:p.Leu189Ter
NM_001288953.1:c.463del	NP_001275882.1:p.Leu155Ter
NM_001288955.1:c.-340del	NP_001275884.1:n.-340del
NM_020458.3:c.565del	NP_065191.2:p.Leu189Ter
XM_005264439.2:c.208del	XP_005264496.1:p.Leu70Ter
XM_011532998.1:c.208del	XP_011531300.1:p.Leu70Ter
XM_011532999.1:c.565del	XP_011531301.1:p.Leu189Ter
XR_939696.1:n.870del
XM_005264439.4:c.208del	XP_005264496.1:p.Leu70Ter
XM_011532998.3:c.208del	XP_011531300.1:p.Leu70Ter
XM_011532999.2:c.565del	XP_011531301.1:p.Leu189Ter
XM_017004524.1:c.565del	XP_016860013.1:p.Leu189Ter
XM_017004525.1:c.397del	XP_016860014.1:p.Leu133Ter
XM_017004526.1:c.565del	XP_016860015.1:p.Leu189Ter
XM_017004529.1:c.565del	XP_016860018.1:p.Leu189Ter
XR_001738853.2:n.877del
XR_001738854.1:n.876del
NM_020458.4:c.565del MANE Select	NP_065191.2:p.Leu189Ter
NM_001288951.2:c.565del	NP_001275880.1:p.Leu189Ter
NM_001288953.2:c.463del	NP_001275882.1:p.Leu155Ter
NM_001288955.2:c.-340del	NP_001275884.1:n.-340del