Canonical Allele Identifier: CA1291598705

Gene: THSD7B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137469966_137469967delinsAT , CM000664.2:g.137469966_137469967delinsAT	GRCh38
NC_000002.11:g.138227536_138227537delinsAT , CM000664.1:g.138227536_138227537delinsAT	GRCh37
NC_000002.10:g.137944006_137944007delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409968.6:c.3138+18943_3138+18944delinsAT MANE Select	ENSP00000387145.1:n.3138+18943_3138+18944delinsAT
ENST00000272643.7:c.3139+18942_3139+18943delinsAT	ENSP00000272643.4:n.3139+18942_3139+18943delinsAT
ENST00000409968.5:c.3138+18943_3138+18944delinsAT	ENSP00000387145.1:n.3138+18943_3138+18944delinsAT
ENST00000413152.3:c.3046+18942_3046+18943delinsAT	ENSP00000413841.3:n.3046+18942_3046+18943delinsAT
NM_001080427.1:c.3045+18943_3045+18944delinsAT	NP_001073896.1:n.3045+18943_3045+18944delinsAT
NM_001316349.1:c.3138+18943_3138+18944delinsAT	NP_001303278.1:n.3138+18943_3138+18944delinsAT
XM_017005049.1:c.1341+18943_1341+18944delinsAT	XP_016860538.1:n.1341+18943_1341+18944delinsAT
NM_001316349.2:c.3138+18943_3138+18944delinsAT MANE Select	NP_001303278.1:n.3138+18943_3138+18944delinsAT