Canonical Allele Identifier: CA62861906

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• dbSNP Id: rs955693131
• gnomAD v2: 2-198365722-G-GTA
• gnomAD v3: 2-197500998-G-GTA
• gnomAD v4: 2-197500998-G-GTA
• MyVariant Identifiers: chr2:g.198365722_198365723insTA (hg19) ; chr2:g.197500998_197500999insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197501001_197501002dup , CM000664.2:g.197501001_197501002dup	GRCh38
NC_000002.11:g.198365725_198365726dup , CM000664.1:g.198365725_198365726dup	GRCh37
NC_000002.10:g.198073970_198073971dup	NCBI36
NG_008914.1:g.6005_6006dup
NG_008915.1:g.4275_4276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233893.10:c.4-73_4-72dup (HSPE1) MANE Select	ENSP00000233893.5:n.4-73_4-72dup
ENST00000426480.2:c.-2-2150_-2-2149dup (HSPD1)	ENSP00000414446.2:n.-2-2150_-2-2149dup
ENST00000233893.9:c.4-73_4-72dup (HSPE1)	ENSP00000233893.5:n.4-73_4-72dup
ENST00000409468.1:c.4-73_4-72dup (HSPE1)	ENSP00000386447.1:n.4-73_4-72dup
ENST00000409729.1:c.3+562_3+563dup (HSPE1)	ENSP00000387101.1:n.3+562_3+563dup
ENST00000426480.1:c.125-2150_125-2149dup (HSPD1)	ENSP00000414446.1:n.125-2150_125-2149dup
ENST00000463841.1:n.120_121dup (HSPE1)
ENST00000465573.1:n.376+83_376+84dup (HSPE1)
ENST00000473395.1:n.92-73_92-72dup (HSPE1)
ENST00000495200.1:n.482-73_482-72dup (HSPE1)
ENST00000604458.1:c.4-73_4-72dup (HSPE1-MOB4)	ENSP00000474534.1:n.4-73_4-72dup
NM_001202485.1:c.4-73_4-72dup (HSPE1-MOB4)	NP_001189414.1:n.4-73_4-72dup
NM_002157.2:c.4-73_4-72dup (HSPE1)	NP_002148.1:n.4-73_4-72dup
NM_002157.3:c.4-73_4-72dup (HSPE1) MANE Select	NP_002148.1:n.4-73_4-72dup
NM_001202485.2:c.4-73_4-72dup (HSPE1-MOB4)	NP_001189414.1:n.4-73_4-72dup