Canonical Allele Identifier: CA2616532934

Gene: HSPA8 SNORD14C

Linked Data

• gnomAD v4: 11-123059359-TTGCCATCATTAGCCAAGCTTTTGGTGGAAACTACGAATGTTTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123059360_123059403del , CM000673.2:g.123059360_123059403del	GRCh38
NC_000011.9:g.122930068_122930111del , CM000673.1:g.122930068_122930111del	GRCh37
NC_000011.8:g.122435278_122435321del	NCBI36
NG_029473.1:g.7734_7777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534624.6:c.1120+70_1121-99del (HSPA8) MANE Select	ENSP00000432083.1:n.1120+70_1121-99del
ENST00000227378.7:c.1120+70_1121-99del (HSPA8)	ENSP00000227378.3:n.1120+70_1121-99del
ENST00000453788.6:c.1120+70_1121-99del (HSPA8)	ENSP00000404372.2:n.1120+70_1121-99del
ENST00000524552.5:c.-249_-206del (HSPA8)	ENSP00000435908.1:n.-249_-206del
ENST00000526110.5:c.1063+70_1064-99del (HSPA8)	ENSP00000433584.1:n.1063+70_1064-99del
ENST00000526862.1:n.398+70_399-99del (HSPA8)
ENST00000527983.5:n.1339_1382del (HSPA8)
ENST00000532091.1:n.867+70_868-99del (HSPA8)
ENST00000532636.5:c.1120+70_1121-99del (HSPA8)	ENSP00000437125.1:n.1120+70_1121-99del
ENST00000533238.5:n.381-300_381-257del (HSPA8)
ENST00000533540.5:c.682+70_683-99del (HSPA8)	ENSP00000437189.1:n.682+70_683-99del
ENST00000534319.5:c.412+70_413-99del (HSPA8)	ENSP00000433316.1:n.412+70_413-99del
ENST00000534624.5:c.1120+70_1121-99del (HSPA8)	ENSP00000432083.1:n.1120+70_1121-99del
NM_006597.5:c.1120+70_1121-99del (HSPA8)	NP_006588.1:n.1120+70_1121-99del
NM_153201.3:c.1120+70_1121-99del (HSPA8)	NP_694881.1:n.1120+70_1121-99del
NR_001453.2:n.20_63del (SNORD14C)
XM_011542798.1:c.1120+70_1121-99del (HSPA8)	XP_011541100.1:n.1120+70_1121-99del
NM_006597.6:c.1120+70_1121-99del (HSPA8) MANE Select	NP_006588.1:n.1120+70_1121-99del
NM_153201.4:c.1120+70_1121-99del (HSPA8)	NP_694881.1:n.1120+70_1121-99del