Canonical Allele Identifier: CA2662516746
Gene: HSPE1 HGNC NCBI
HSPD1 HGNC NCBI
HSPE1-MOB4 HGNC NCBI

Linked Data

gnomAD v4: 2-197500866-CGACAACGACCCCTAACAGACGTAAGGAATCGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197500869_197500900del , CM000664.2:g.197500869_197500900del GRCh38
NC_000002.11:g.198365593_198365624del , CM000664.1:g.198365593_198365624del GRCh37
NC_000002.10:g.198073838_198073869del NCBI36
NG_008914.1:g.5873_5904del
NG_008915.1:g.4377_4408del

Transcript Alleles

HGVS Amino-acid change
ENST00000233893.10:c.4-205_4-174del (HSPE1) MANE Select ENSP00000233893.5:n.4-205_4-174del
ENST00000426480.2:c.-2-2048_-2-2017del (HSPD1) ENSP00000414446.2:n.-2-2048_-2-2017del
ENST00000233893.9:c.4-205_4-174del (HSPE1) ENSP00000233893.5:n.4-205_4-174del
ENST00000409468.1:c.4-205_4-174del (HSPE1) ENSP00000386447.1:n.4-205_4-174del
ENST00000409729.1:c.3+430_3+461del (HSPE1) ENSP00000387101.1:n.3+430_3+461del
ENST00000426480.1:c.125-2048_125-2017del (HSPD1) ENSP00000414446.1:n.125-2048_125-2017del
ENST00000465573.1:n.327_358del (HSPE1)
ENST00000473395.1:n.92-205_92-174del (HSPE1)
ENST00000495200.1:n.432_463del (HSPE1)
ENST00000604458.1:c.4-205_4-174del (HSPE1-MOB4) ENSP00000474534.1:n.4-205_4-174del
NM_001202485.1:c.4-205_4-174del (HSPE1-MOB4) NP_001189414.1:n.4-205_4-174del
NM_002157.2:c.4-205_4-174del (HSPE1) NP_002148.1:n.4-205_4-174del
NM_002157.3:c.4-205_4-174del (HSPE1) MANE Select NP_002148.1:n.4-205_4-174del
NM_001202485.2:c.4-205_4-174del (HSPE1-MOB4) NP_001189414.1:n.4-205_4-174del
Search 100 bp 5'
Search 100 bp 3'