Canonical Allele Identifier: CA1291598742
Gene: THSD7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137470061_137470062delinsAT , CM000664.2:g.137470061_137470062delinsAT GRCh38
NC_000002.11:g.138227631_138227632delinsAT , CM000664.1:g.138227631_138227632delinsAT GRCh37
NC_000002.10:g.137944101_137944102delinsAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.3138+19038_3138+19039delinsAT MANE Select ENSP00000387145.1:n.3138+19038_3138+19039delinsAT
ENST00000272643.7:c.3139+19037_3139+19038delinsAT ENSP00000272643.4:n.3139+19037_3139+19038delinsAT
ENST00000409968.5:c.3138+19038_3138+19039delinsAT ENSP00000387145.1:n.3138+19038_3138+19039delinsAT
ENST00000413152.3:c.3046+19037_3046+19038delinsAT ENSP00000413841.3:n.3046+19037_3046+19038delinsAT
NM_001080427.1:c.3045+19038_3045+19039delinsAT NP_001073896.1:n.3045+19038_3045+19039delinsAT
NM_001316349.1:c.3138+19038_3138+19039delinsAT NP_001303278.1:n.3138+19038_3138+19039delinsAT
XM_017005049.1:c.1341+19038_1341+19039delinsAT XP_016860538.1:n.1341+19038_1341+19039delinsAT
NM_001316349.2:c.3138+19038_3138+19039delinsAT MANE Select NP_001303278.1:n.3138+19038_3138+19039delinsAT