Canonical Allele Identifier: CA538526024

Gene: HSPD1

Linked Data

• dbSNP Id: rs1248190842
• gnomAD v2: 2-198352254-T-TCAAAA
• gnomAD v3: 2-197487530-T-TCAAAA
• gnomAD v4: 2-197487530-T-TCAAAA
• MyVariant Identifiers: chr2:g.198352254_198352255insCAAAA (hg19) ; chr2:g.197487530_197487531insCAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197487542_197487546dup , CM000664.2:g.197487542_197487546dup	GRCh38
NC_000002.11:g.198352266_198352270dup , CM000664.1:g.198352266_198352270dup	GRCh37
NC_000002.10:g.198060511_198060515dup	NCBI36
NG_008915.1:g.17740_17744dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000388968.8:c.1569+323_1569+327dup MANE Select	ENSP00000373620.3:n.1569+323_1569+327dup
ENST00000418022.2:c.1569+323_1569+327dup	ENSP00000412227.2:n.1569+323_1569+327dup
ENST00000426480.2:c.1569+323_1569+327dup	ENSP00000414446.2:n.1569+323_1569+327dup
ENST00000428204.6:c.1569+323_1569+327dup	ENSP00000396460.2:n.1569+323_1569+327dup
ENST00000439605.2:c.1569+323_1569+327dup	ENSP00000402478.2:n.1569+323_1569+327dup
ENST00000440114.2:c.*1375+323_*1375+327dup	ENSP00000390404.1:n.*1375+323_*1375+327dup
ENST00000452200.6:c.1569+323_1569+327dup	ENSP00000412717.2:n.1569+323_1569+327dup
ENST00000461097.2:n.4317+323_4317+327dup
ENST00000476746.6:n.2617+323_2617+327dup
ENST00000676933.1:c.1473+323_1473+327dup	ENSP00000503144.1:n.1473+323_1473+327dup
ENST00000677403.1:c.*565+323_*565+327dup	ENSP00000504667.1:n.*565+323_*565+327dup
ENST00000677454.1:c.1707+323_1707+327dup	ENSP00000503295.1:n.1707+323_1707+327dup
ENST00000677792.1:c.*578+323_*578+327dup	ENSP00000504645.1:n.*578+323_*578+327dup
ENST00000677913.1:c.1569+323_1569+327dup	ENSP00000503139.1:n.1569+323_1569+327dup
ENST00000678170.1:c.1296+323_1296+327dup	ENSP00000503910.1:n.1296+323_1296+327dup
ENST00000678545.1:c.*879+323_*879+327dup	ENSP00000502920.1:n.*879+323_*879+327dup
ENST00000678621.1:c.1570-156_1570-152dup	ENSP00000504328.1:n.1570-156_1570-152dup
ENST00000678761.1:c.1569+323_1569+327dup	ENSP00000503894.1:n.1569+323_1569+327dup
ENST00000678969.1:n.3159+323_3159+327dup
ENST00000679291.1:c.*578+323_*578+327dup	ENSP00000504417.1:n.*578+323_*578+327dup
ENST00000345042.6:c.1569+323_1569+327dup	ENSP00000340019.2:n.1569+323_1569+327dup
ENST00000388968.7:c.1569+323_1569+327dup	ENSP00000373620.3:n.1569+323_1569+327dup
NM_002156.4:c.1569+323_1569+327dup	NP_002147.2:n.1569+323_1569+327dup
NM_199440.1:c.1569+323_1569+327dup	NP_955472.1:n.1569+323_1569+327dup
XM_005246518.2:c.1569+323_1569+327dup	XP_005246575.1:n.1569+323_1569+327dup
NM_002156.5:c.1569+323_1569+327dup MANE Select	NP_002147.2:n.1569+323_1569+327dup
NM_199440.2:c.1569+323_1569+327dup	NP_955472.1:n.1569+323_1569+327dup