Canonical Allele Identifier: CA62851786

Gene: HSPD1

Linked Data

• dbSNP Id: rs748486116
• gnomAD v3: 2-197487521-ACT-A
• gnomAD v4: 2-197487521-ACT-A
• MyVariant Identifiers: chr2:g.198352246_198352247del (hg19) ; chr2:g.197487522_197487523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197487524_197487525del , CM000664.2:g.197487524_197487525del	GRCh38
NC_000002.11:g.198352248_198352249del , CM000664.1:g.198352248_198352249del	GRCh37
NC_000002.10:g.198060493_198060494del	NCBI36
NG_008915.1:g.17752_17753del

Transcript Alleles

HGVS	Amino-acid change
ENST00000388968.8:c.1570-325_1570-324del MANE Select	ENSP00000373620.3:n.1570-325_1570-324del
ENST00000418022.2:c.1570-325_1570-324del	ENSP00000412227.2:n.1570-325_1570-324del
ENST00000426480.2:c.1570-325_1570-324del	ENSP00000414446.2:n.1570-325_1570-324del
ENST00000428204.6:c.1570-325_1570-324del	ENSP00000396460.2:n.1570-325_1570-324del
ENST00000439605.2:c.1570-325_1570-324del	ENSP00000402478.2:n.1570-325_1570-324del
ENST00000440114.2:c.*1376-325_*1376-324del	ENSP00000390404.1:n.*1376-325_*1376-324del
ENST00000452200.6:c.1570-325_1570-324del	ENSP00000412717.2:n.1570-325_1570-324del
ENST00000461097.2:n.4318-325_4318-324del
ENST00000476746.6:n.2618-325_2618-324del
ENST00000676933.1:c.1474-325_1474-324del	ENSP00000503144.1:n.1474-325_1474-324del
ENST00000677403.1:c.*566-325_*566-324del	ENSP00000504667.1:n.*566-325_*566-324del
ENST00000677454.1:c.1708-325_1708-324del	ENSP00000503295.1:n.1708-325_1708-324del
ENST00000677792.1:c.*579-325_*579-324del	ENSP00000504645.1:n.*579-325_*579-324del
ENST00000677913.1:c.1570-325_1570-324del	ENSP00000503139.1:n.1570-325_1570-324del
ENST00000678170.1:c.1297-325_1297-324del	ENSP00000503910.1:n.1297-325_1297-324del
ENST00000678545.1:c.*880-325_*880-324del	ENSP00000502920.1:n.*880-325_*880-324del
ENST00000678621.1:c.1570-144_1570-143del	ENSP00000504328.1:n.1570-144_1570-143del
ENST00000678761.1:c.1570-325_1570-324del	ENSP00000503894.1:n.1570-325_1570-324del
ENST00000678969.1:n.3160-325_3160-324del
ENST00000679291.1:c.*579-325_*579-324del	ENSP00000504417.1:n.*579-325_*579-324del
ENST00000345042.6:c.1570-325_1570-324del	ENSP00000340019.2:n.1570-325_1570-324del
ENST00000388968.7:c.1570-325_1570-324del	ENSP00000373620.3:n.1570-325_1570-324del
NM_002156.4:c.1570-325_1570-324del	NP_002147.2:n.1570-325_1570-324del
NM_199440.1:c.1570-325_1570-324del	NP_955472.1:n.1570-325_1570-324del
XM_005246518.2:c.1570-325_1570-324del	XP_005246575.1:n.1570-325_1570-324del
NM_002156.5:c.1570-325_1570-324del MANE Select	NP_002147.2:n.1570-325_1570-324del
NM_199440.2:c.1570-325_1570-324del	NP_955472.1:n.1570-325_1570-324del