Canonical Allele Identifier: CA633066268

Gene: RYR1

Linked Data

• gnomAD v2: 19-38993422-GGGGCAGGGGCAGGGGC-G
• gnomAD v3: 19-38502782-GGGGCAGGGGCAGGGGC-G
• gnomAD v4: 19-38502782-GGGGCAGGGGCAGGGGC-G
• MyVariant Identifiers: chr19:g.38993423_38993438del (hg19) ; chr19:g.38502783_38502798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502783_38502798del , CM000681.2:g.38502783_38502798del	GRCh38
NC_000019.9:g.38993423_38993438del , CM000681.1:g.38993423_38993438del	GRCh37
NC_000019.8:g.43685263_43685278del	NCBI36
NG_008866.1:g.74084_74099del , LRG_766:g.74084_74099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+56_7835+71del	ENSP00000471601.2:n.7835+56_7835+71del
ENST00000359596.8:c.7835+56_7835+71del MANE Select	ENSP00000352608.2:n.7835+56_7835+71del
ENST00000355481.8:c.7835+56_7835+71del	ENSP00000347667.3:n.7835+56_7835+71del
ENST00000359596.7:c.7835+56_7835+71del	ENSP00000352608.2:n.7835+56_7835+71del
ENST00000360985.7:c.7832+56_7832+71del	ENSP00000354254.4:n.7832+56_7832+71del
ENST00000594335.5:c.1287+56_1287+71del
NM_000540.2:c.7835+56_7835+71del , LRG_766t1:c.7835+56_7835+71del	NP_000531.2:n.7835+56_7835+71del
NM_001042723.1:c.7835+56_7835+71del	NP_001036188.1:n.7835+56_7835+71del
XM_006723317.1:c.7835+56_7835+71del	XP_006723380.1:n.7835+56_7835+71del
XM_006723319.1:c.7835+56_7835+71del	XP_006723382.1:n.7835+56_7835+71del
XM_011527204.1:c.7832+56_7832+71del	XP_011525506.1:n.7832+56_7832+71del
XM_011527205.1:c.7835+56_7835+71del	XP_011525507.1:n.7835+56_7835+71del
XM_006723317.2:c.7835+56_7835+71del	XP_006723380.1:n.7835+56_7835+71del
XM_006723319.2:c.7835+56_7835+71del	XP_006723382.1:n.7835+56_7835+71del
XM_011527205.2:c.7835+56_7835+71del	XP_011525507.1:n.7835+56_7835+71del
XR_001753735.1:n.7918+56_7918+71del
NM_000540.3:c.7835+56_7835+71del MANE Select	NP_000531.2:n.7835+56_7835+71del
NM_001042723.2:c.7835+56_7835+71del	NP_001036188.1:n.7835+56_7835+71del