Canonical Allele Identifier: CA560888450

Gene: RASA1 CCNH

Linked Data

• ClinVar Variation Id: 2162430
• ClinVar RCV Id: RCV003070236
• dbSNP Id: rs1561286651
• gnomAD v2: 5-86627146-TTC-T
• gnomAD v3: 5-87331329-TTC-T
• gnomAD v4: 5-87331329-TTC-T
• MyVariant Identifiers: chr5:g.86627147_86627148del (hg19) ; chr5:g.87331330_87331331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87331333_87331334del , CM000667.2:g.87331333_87331334del	GRCh38
NC_000005.9:g.86627150_86627151del , CM000667.1:g.86627150_86627151del	GRCh37
NC_000005.8:g.86662906_86662907del	NCBI36
NG_011650.1:g.68000_68001del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.540-15_540-14del (RASA1) MANE Select	ENSP00000274376.6:n.540-15_540-14del
ENST00000645953.1:c.*91-12434_*91-12433del (CCNH)	ENSP00000494460.1:n.*91-12434_*91-12433de...
ENST00000274376.10:c.540-15_540-14del (RASA1)	ENSP00000274376.6:n.540-15_540-14del
ENST00000456692.6:c.9-15_9-14del (RASA1)	ENSP00000411221.2:n.9-15_9-14del
ENST00000506290.1:c.42-15_42-14del (RASA1)	ENSP00000420905.1:n.42-15_42-14del
ENST00000512763.5:c.39-15_39-14del (RASA1)	ENSP00000422008.1:n.39-15_39-14del
ENST00000515800.6:c.540-15_540-14del (RASA1)	ENSP00000423395.2:n.540-15_540-14del
NM_002890.2:c.540-15_540-14del (RASA1)	NP_002881.1:n.540-15_540-14del
NM_022650.2:c.9-15_9-14del (RASA1)	NP_072179.1:n.9-15_9-14del
XM_011543525.1:c.540-15_540-14del (RASA1)	XP_011541827.1:n.540-15_540-14del
XM_011543526.1:c.540-15_540-14del (RASA1)	XP_011541828.1:n.540-15_540-14del
XM_011543527.1:c.540-15_540-14del (RASA1)	XP_011541829.1:n.540-15_540-14del
NM_001364075.1:c.934-18536_934-18535del (CCNH)	NP_001351004.1:n.934-18536_934-18535del
NR_157068.1:n.1448-18536_1448-18535del (CCNH)
NR_157069.1:n.1041-18536_1041-18535del (CCNH)
NR_157070.1:n.1205-18536_1205-18535del (CCNH)
XM_011543525.2:c.540-15_540-14del (RASA1)	XP_011541827.1:n.540-15_540-14del
XM_011543527.3:c.540-15_540-14del (RASA1)	XP_011541829.1:n.540-15_540-14del
NM_001364075.2:c.934-18536_934-18535del (CCNH)	NP_001351004.1:n.934-18536_934-18535del
NM_002890.3:c.540-15_540-14del (RASA1) MANE Select	NP_002881.1:n.540-15_540-14del
NR_157068.2:n.1448-18536_1448-18535del (CCNH)
NR_157069.2:n.1041-18536_1041-18535del (CCNH)
NR_157070.2:n.1205-18536_1205-18535del (CCNH)
NM_022650.3:c.9-15_9-14del (RASA1)	NP_072179.1:n.9-15_9-14del