Canonical Allele Identifier: CA2674518997

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87389547-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87389549_87389551del , CM000667.2:g.87389549_87389551del	GRCh38
NC_000005.9:g.86685366_86685368del , CM000667.1:g.86685366_86685368del	GRCh37
NC_000005.8:g.86721122_86721124del	NCBI36
NG_011650.1:g.126216_126218del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274376.11:c.3060+22_3060+24del (RASA1) MANE Select	ENSP00000274376.6:n.3060+22_3060+24del
ENST00000645953.1:c.*90+3220_*90+3222del (CCNH)	ENSP00000494460.1:n.*90+3220_*90+3222del
ENST00000646883.1:c.254+3220_254+3222del (CCNH)
ENST00000274376.10:c.3060+22_3060+24del (RASA1)	ENSP00000274376.6:n.3060+22_3060+24del
ENST00000456692.6:c.2529+22_2529+24del (RASA1)	ENSP00000411221.2:n.2529+22_2529+24del
ENST00000506290.1:c.2562+22_2562+24del (RASA1)	ENSP00000420905.1:n.2562+22_2562+24del
ENST00000512763.5:c.2559+22_2559+24del (RASA1)	ENSP00000422008.1:n.2559+22_2559+24del
ENST00000515800.6:c.*1675+22_*1675+24del (RASA1)	ENSP00000423395.2:n.*1675+22_*1675+24del
NM_002890.2:c.3060+22_3060+24del (RASA1)	NP_002881.1:n.3060+22_3060+24del
NM_022650.2:c.2529+22_2529+24del (RASA1)	NP_072179.1:n.2529+22_2529+24del
XM_011543525.1:c.2973+22_2973+24del (RASA1)	XP_011541827.1:n.2973+22_2973+24del
NM_001364075.1:c.933+5494_933+5496del (CCNH)	NP_001351004.1:n.933+5494_933+5496del
NR_157068.1:n.1447+3220_1447+3222del (CCNH)
NR_157069.1:n.1040+3220_1040+3222del (CCNH)
NR_157070.1:n.1204+3220_1204+3222del (CCNH)
XM_011543525.2:c.2973+22_2973+24del (RASA1)	XP_011541827.1:n.2973+22_2973+24del
NM_001364075.2:c.933+5494_933+5496del (CCNH)	NP_001351004.1:n.933+5494_933+5496del
NM_002890.3:c.3060+22_3060+24del (RASA1) MANE Select	NP_002881.1:n.3060+22_3060+24del
NR_157068.2:n.1447+3220_1447+3222del (CCNH)
NR_157069.2:n.1040+3220_1040+3222del (CCNH)
NR_157070.2:n.1204+3220_1204+3222del (CCNH)
NM_022650.3:c.2529+22_2529+24del (RASA1)	NP_072179.1:n.2529+22_2529+24del