Canonical Allele Identifier: CA2582341748

Gene: RALGAPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35672900_35672901dup , CM000676.2:g.35672900_35672901dup	GRCh38
NC_000014.8:g.36142106_36142107dup , CM000676.1:g.36142106_36142107dup	GRCh37
NC_000014.7:g.35211857_35211858dup	NCBI36
NG_051667.1:g.141426_141427dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001346249.2:c.5042_5043dup MANE Select	NP_001333178.1:p.Met1682Ter
ENST00000680220.1:c.5042_5043dup MANE Select	ENSP00000506280.1:p.Met1682Ter
NM_001283043.1:c.3563_3564dup	NP_001269972.1:p.Met1189Ter
NM_001283043.2:c.3563_3564dup	NP_001269972.1:p.Met1189Ter
NM_001283043.3:c.3563_3564dup	NP_001269972.1:p.Met1189Ter
NM_001283044.1:c.3665_3666dup	NP_001269973.1:p.Met1223Ter
NM_001283044.2:c.3665_3666dup	NP_001269973.1:p.Met1223Ter
NM_001283044.3:c.3665_3666dup	NP_001269973.1:p.Met1223Ter
NM_001330075.2:c.4901_4902dup	NP_001317004.1:p.Met1635Ter
NM_001330075.3:c.4901_4902dup	NP_001317004.1:p.Met1635Ter
NM_001346243.1:c.3524_3525dup	NP_001333172.1:p.Met1176Ter
NM_001346243.2:c.3524_3525dup	NP_001333172.1:p.Met1176Ter
NM_001346245.1:c.3665_3666dup	NP_001333174.1:p.Met1223Ter
NM_001346245.2:c.3665_3666dup	NP_001333174.1:p.Met1223Ter
NM_001346246.1:c.3524_3525dup	NP_001333175.1:p.Met1176Ter
NM_001346246.2:c.3524_3525dup	NP_001333175.1:p.Met1176Ter
NM_001346247.1:c.3665_3666dup	NP_001333176.1:p.Met1223Ter
NM_001346247.2:c.3665_3666dup	NP_001333176.1:p.Met1223Ter
NM_001346248.1:c.4901_4902dup	NP_001333177.1:p.Met1635Ter
NM_001346248.2:c.4901_4902dup	NP_001333177.1:p.Met1635Ter
NM_001346249.1:c.5042_5043dup	NP_001333178.1:p.Met1682Ter
NM_014990.1:c.3524_3525dup	NP_055805.1:p.Met1176Ter
NM_014990.2:c.3524_3525dup	NP_055805.1:p.Met1176Ter
NM_014990.3:c.3524_3525dup	NP_055805.1:p.Met1176Ter
NM_194301.2:c.3524_3525dup	NP_919277.2:p.Met1176Ter
NM_194301.3:c.3524_3525dup	NP_919277.2:p.Met1176Ter
NM_194301.4:c.3524_3525dup	NP_919277.2:p.Met1176Ter
ENST00000307138.10:c.3524_3525dup	ENSP00000302647.6:p.Met1176Ter
ENST00000382366.7:c.3563_3564dup	ENSP00000371803.3:p.Met1189Ter
ENST00000389698.7:c.3524_3525dup	ENSP00000374348.3:p.Met1176Ter
ENST00000553892.2:c.3665_3666dup	ENSP00000451877.1:p.Met1223Ter
ENST00000554259.6:c.3665_3666dup	ENSP00000451133.2:p.Met1223Ter
ENST00000637992.1:c.4901_4902dup	ENSP00000490119.1:p.Met1635Ter
XM_005267491.2:c.3665_3666dup	XP_005267548.1:p.Met1223Ter
XM_005267492.2:c.3665_3666dup	XP_005267549.1:p.Met1223Ter
XM_005267492.4:c.3665_3666dup	XP_005267549.1:p.Met1223Ter
XM_005267493.2:c.3524_3525dup	XP_005267550.1:p.Met1176Ter
XM_005267498.3:c.1247_1248dup	XP_005267555.1:p.Met417Ter
XM_005267498.4:c.1247_1248dup	XP_005267555.1:p.Met417Ter
XM_006720098.2:c.5042_5043dup	XP_006720161.1:p.Met1682Ter
XM_006720098.3:c.5042_5043dup	XP_006720161.1:p.Met1682Ter
XM_006720099.2:c.5042_5043dup	XP_006720162.1:p.Met1682Ter
XM_006720099.3:c.5042_5043dup	XP_006720162.1:p.Met1682Ter
XM_006720100.2:c.4901_4902dup	XP_006720163.1:p.Met1635Ter
XM_006720100.4:c.4901_4902dup	XP_006720163.1:p.Met1635Ter
XM_006720101.2:c.5042_5043dup	XP_006720164.1:p.Met1682Ter
XM_006720101.3:c.5042_5043dup	XP_006720164.1:p.Met1682Ter
XM_006720102.2:c.5042_5043dup	XP_006720165.1:p.Met1682Ter
XM_006720103.2:c.3665_3666dup	XP_006720166.1:p.Met1223Ter
XM_011536615.1:c.5042_5043dup	XP_011534917.1:p.Met1682Ter
XM_011536615.3:c.5042_5043dup	XP_011534917.1:p.Met1682Ter
XM_011536616.1:c.5042_5043dup	XP_011534918.1:p.Met1682Ter
XM_011536616.3:c.5042_5043dup	XP_011534918.1:p.Met1682Ter
XM_011536617.1:c.1994_1995dup	XP_011534919.1:p.Met666Ter
XM_017021143.2:c.5042_5043dup	XP_016876632.1:p.Met1682Ter
XM_017021146.1:c.2774_2775dup	XP_016876635.1:p.Met926Ter
XM_017021147.1:c.1397_1398dup	XP_016876636.1:p.Met467Ter
XM_024449523.1:c.1994_1995dup	XP_024305291.1:p.Met666Ter