Canonical Allele Identifier: CA1718330628

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303722_76303725delinsCAGG , CM000669.2:g.76303722_76303725delinsCAGG	GRCh38
NC_000007.13:g.75933039_75933042delinsCAGG , CM000669.1:g.75933039_75933042delinsCAGG	GRCh37
NC_000007.12:g.75770975_75770978delinsCAGG	NCBI36
NG_008995.1:g.6165_6168delinsCAGG , LRG_248:g.6165_6168delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-80_365-77delinsCAGG MANE Select	ENSP00000248553.6:n.365-80_365-77delinsCAGG
ENST00000674547.1:c.365-80_365-77delinsCAGG	ENSP00000502461.1:n.365-80_365-77delinsCAGG
ENST00000674638.1:c.365-85_365-82delinsCAGG	ENSP00000502651.1:n.365-85_365-82delinsCAGG
ENST00000674650.1:c.365-262_365-259delinsCAGG	ENSP00000501628.1:n.365-262_365-259delinsCAGG
ENST00000674965.1:c.365-55_365-52delinsCAGG	ENSP00000501765.1:n.365-55_365-52delinsCAGG
ENST00000675134.1:c.365-80_365-77delinsCAGG	ENSP00000501831.1:n.365-80_365-77delinsCAGG
ENST00000675226.1:c.369-85_369-82delinsCAGG	ENSP00000502510.1:n.369-85_369-82delinsCAGG
ENST00000675417.1:n.518_521delinsCAGG
ENST00000675538.1:c.400-80_400-77delinsCAGG	ENSP00000502495.1:n.400-80_400-77delinsCAGG
ENST00000675733.1:n.405-40_405-37delinsCAGG
ENST00000675906.1:c.365-80_365-77delinsCAGG	ENSP00000502714.1:n.365-80_365-77delinsCAGG
ENST00000676195.1:n.80+66_80+69delinsCAGG
ENST00000676231.1:c.389_392delinsCAGG	ENSP00000502249.1:p.Ala130=
ENST00000248553.6:c.365-80_365-77delinsCAGG	ENSP00000248553.6:n.365-80_365-77delinsCAGG
ENST00000429938.1:c.-146_-143delinsCAGG	ENSP00000405285.1:n.-146_-143delinsCAGG
ENST00000447574.1:c.*449_*452delinsCAGG	ENSP00000414357.1:n.*449_*452delinsCAGG
NM_001540.3:c.365-80_365-77delinsCAGG , LRG_248t1:c.365-80_365-77delinsCAGG	NP_001531.1:n.365-80_365-77delinsCAGG
NM_001540.4:c.365-80_365-77delinsCAGG	NP_001531.1:n.365-80_365-77delinsCAGG
NM_001540.5:c.365-80_365-77delinsCAGG MANE Select	NP_001531.1:n.365-80_365-77delinsCAGG