Canonical Allele Identifier: CA2752361136
Gene: THSD7B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137469763_137469768del , CM000664.2:g.137469763_137469768del GRCh38
NC_000002.11:g.138227333_138227338del , CM000664.1:g.138227333_138227338del GRCh37
NC_000002.10:g.137943803_137943808del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.3138+18740_3138+18745del MANE Select ENSP00000387145.1:n.3138+18740_3138+18745del
ENST00000272643.7:c.3139+18739_3139+18744del ENSP00000272643.4:n.3139+18739_3139+18744del
ENST00000409968.5:c.3138+18740_3138+18745del ENSP00000387145.1:n.3138+18740_3138+18745del
ENST00000413152.3:c.3046+18739_3046+18744del ENSP00000413841.3:n.3046+18739_3046+18744del
NM_001080427.1:c.3045+18740_3045+18745del NP_001073896.1:n.3045+18740_3045+18745del
NM_001316349.1:c.3138+18740_3138+18745del NP_001303278.1:n.3138+18740_3138+18745del
XM_017005049.1:c.1341+18740_1341+18745del XP_016860538.1:n.1341+18740_1341+18745del
NM_001316349.2:c.3138+18740_3138+18745del MANE Select NP_001303278.1:n.3138+18740_3138+18745del
Search 100 bp 5'
Search 100 bp 3'