Canonical Allele Identifier: CA2674515842

Gene: RASA1 CCNH

Linked Data

• gnomAD v4: 5-87349254-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.87349255dup , CM000667.2:g.87349255dup	GRCh38
NC_000005.9:g.86645072dup , CM000667.1:g.86645072dup	GRCh37
NC_000005.8:g.86680828dup	NCBI36
NG_011650.1:g.85922dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274376.11:c.1144dup (RASA1) MANE Select	ENSP00000274376.6:p.Thr382AsnfsTer13
ENST00000645953.1:c.*91-30358dup (CCNH)	ENSP00000494460.1:n.*91-30358dup
ENST00000274376.10:c.1144dup (RASA1)	ENSP00000274376.6:p.Thr382AsnfsTer13
ENST00000456692.6:c.613dup (RASA1)	ENSP00000411221.2:p.Thr205AsnfsTer13
ENST00000506290.1:c.646dup (RASA1)	ENSP00000420905.1:p.Thr216AsnfsTer13
ENST00000509953.1:n.247dup (RASA1)
ENST00000512763.5:c.643dup (RASA1)	ENSP00000422008.1:p.Thr215AsnfsTer13
ENST00000515800.6:c.1144dup (RASA1)	ENSP00000423395.2:p.Thr382AsnfsTer13
NM_002890.2:c.1144dup (RASA1)	NP_002881.1:p.Thr382AsnfsTer13
NM_022650.2:c.613dup (RASA1)	NP_072179.1:p.Thr205AsnfsTer13
XM_011543525.1:c.1144dup (RASA1)	XP_011541827.1:p.Thr382AsnfsTer13
XM_011543526.1:c.1144dup (RASA1)	XP_011541828.1:p.Thr382AsnfsTer13
XM_011543527.1:c.1144dup (RASA1)	XP_011541829.1:p.Thr382AsnfsTer13
NM_001364075.1:c.934-36460dup (CCNH)	NP_001351004.1:n.934-36460dup
NR_157068.1:n.1448-36460dup (CCNH)
NR_157069.1:n.1041-36460dup (CCNH)
NR_157070.1:n.1205-36460dup (CCNH)
XM_011543525.2:c.1144dup (RASA1)	XP_011541827.1:p.Thr382AsnfsTer13
XM_011543527.3:c.1144dup (RASA1)	XP_011541829.1:p.Thr382AsnfsTer13
NM_001364075.2:c.934-36460dup (CCNH)	NP_001351004.1:n.934-36460dup
NM_002890.3:c.1144dup (RASA1) MANE Select	NP_002881.1:p.Thr382AsnfsTer13
NR_157068.2:n.1448-36460dup (CCNH)
NR_157069.2:n.1041-36460dup (CCNH)
NR_157070.2:n.1205-36460dup (CCNH)
NM_022650.3:c.613dup (RASA1)	NP_072179.1:p.Thr205AsnfsTer13