Canonical Allele Identifier: CA1041003914

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• dbSNP Id: rs2086246211
• gnomAD v3: 2-197500992-TGA-T
• gnomAD v4: 2-197500992-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197500995_197500996del , CM000664.2:g.197500995_197500996del	GRCh38
NC_000002.11:g.198365719_198365720del , CM000664.1:g.198365719_198365720del	GRCh37
NC_000002.10:g.198073964_198073965del	NCBI36
NG_008914.1:g.5999_6000del
NG_008915.1:g.4281_4282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233893.10:c.4-79_4-78del (HSPE1) MANE Select	ENSP00000233893.5:n.4-79_4-78del
ENST00000426480.2:c.-2-2144_-2-2143del (HSPD1)	ENSP00000414446.2:n.-2-2144_-2-2143del
ENST00000233893.9:c.4-79_4-78del (HSPE1)	ENSP00000233893.5:n.4-79_4-78del
ENST00000409468.1:c.4-79_4-78del (HSPE1)	ENSP00000386447.1:n.4-79_4-78del
ENST00000409729.1:c.3+556_3+557del (HSPE1)	ENSP00000387101.1:n.3+556_3+557del
ENST00000426480.1:c.125-2144_125-2143del (HSPD1)	ENSP00000414446.1:n.125-2144_125-2143del
ENST00000463841.1:n.114_115del (HSPE1)
ENST00000465573.1:n.376+77_376+78del (HSPE1)
ENST00000473395.1:n.92-79_92-78del (HSPE1)
ENST00000495200.1:n.481+77_482-78del (HSPE1)
ENST00000604458.1:c.4-79_4-78del (HSPE1-MOB4)	ENSP00000474534.1:n.4-79_4-78del
NM_001202485.1:c.4-79_4-78del (HSPE1-MOB4)	NP_001189414.1:n.4-79_4-78del
NM_002157.2:c.4-79_4-78del (HSPE1)	NP_002148.1:n.4-79_4-78del
NM_002157.3:c.4-79_4-78del (HSPE1) MANE Select	NP_002148.1:n.4-79_4-78del
NM_001202485.2:c.4-79_4-78del (HSPE1-MOB4)	NP_001189414.1:n.4-79_4-78del