Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135170167_135170175delinsCAAGTAGAA , CM000664.2:g.135170167_135170175delinsCAAGTAGAA	GRCh38
NC_000002.11:g.135927737_135927745delinsCAAGTAGAA , CM000664.1:g.135927737_135927745delinsCAAGTAGAA	GRCh37
NC_000002.10:g.135644207_135644215delinsCAAGTAGAA	NCBI36
NG_016972.1:g.122903_122911delinsCAAGTAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539493.3:c.2914+1418_2914+1426delinsCAAGTAGAA (RAB3GAP1)	ENSP00000444306.2:n.2914+1418_2914+1426delinsCAAGTAGAA
ENST00000685652.1:n.4971_4979delinsCAAGTAGAA (RAB3GAP1)
ENST00000685967.1:c.3789_3797delinsCAAGTAGAA (RAB3GAP1)	ENSP00000508423.1:n.3789_3797delinsCAAGTAGAA
ENST00000687199.1:c.4421_4429delinsCAAGTAGAA (RAB3GAP1)	ENSP00000510319.1:n.4421_4429delinsCAAGTAGAA
ENST00000688088.1:n.7514_7522delinsCAAGTAGAA (RAB3GAP1)
ENST00000690208.1:c.4010_4018delinsCAAGTAGAA (RAB3GAP1)	ENSP00000510746.1:n.4010_4018delinsCAAGTAGAA
ENST00000691339.1:c.3976_3984delinsCAAGTAGAA (RAB3GAP1)	ENSP00000509953.1:n.3976_3984delinsCAAGTAGAA
ENST00000691478.1:c.4431_4439delinsCAAGTAGAA (RAB3GAP1)	ENSP00000509081.1:n.4431_4439delinsCAAGTAGAA
ENST00000692993.1:n.1911_1919delinsCAAGTAGAA (RAB3GAP1)
ENST00000693554.1:c.2155_2163delinsCAAGTAGAA (RAB3GAP1)	ENSP00000509030.1:n.2155_2163delinsCAAGTAGAA
ENST00000264158.13:c.1386_1394delinsCAAGTAGAA (RAB3GAP1) MANE Select	ENSP00000264158.8:n.1386_1394delinsCAAGTAGAA
ENST00000264158.12:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	ENSP00000264158.7:n.1386_1394delinsCAAGTAGAA
ENST00000412849.5:n.1782-5021_1782-5013delinsTTCTACTTG (ZRANB3)
ENST00000487003.5:n.3098+319_3098+327delinsCAAGTAGAA (RAB3GAP1)
ENST00000539493.2:c.2897+319_2897+327delinsCAAGTAGAA (RAB3GAP1)	ENSP00000444306.1:n.2897+319_2897+327delinsCAAGTAGAA
ENST00000619650.4:c.1618-5021_1618-5013delinsTTCTACTTG (ZRANB3)	ENSP00000480120.1:n.1618-5021_1618-5013delinsTTCTACTTG
NM_001172435.1:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	NP_001165906.1:n.1386_1394delinsCAAGTAGAA
NM_012233.2:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	NP_036365.1:n.1386_1394delinsCAAGTAGAA
XM_011510822.1:c.2935+1418_2935+1426delinsCAAGTAGAA (RAB3GAP1)	XP_011509124.1:n.2935+1418_2935+1426delinsCAAGTAGAA
XM_011510823.1:c.2914+1418_2914+1426delinsCAAGTAGAA (RAB3GAP1)	XP_011509125.1:n.2914+1418_2914+1426delinsCAAGTAGAA
XM_011510824.1:c.408_416delinsCAAGTAGAA (RAB3GAP1)	XP_011509126.1:n.408_416delinsCAAGTAGAA
XM_011510825.1:c.408_416delinsCAAGTAGAA (RAB3GAP1)	XP_011509127.1:n.408_416delinsCAAGTAGAA
XM_011510823.3:c.2914+1418_2914+1426delinsCAAGTAGAA (RAB3GAP1)	XP_011509125.1:n.2914+1418_2914+1426delinsCAAGTAGAA
XM_011510825.3:c.408_416delinsCAAGTAGAA (RAB3GAP1)	XP_011509127.1:n.408_416delinsCAAGTAGAA
XM_011511966.3:c.3049-5021_3049-5013delinsTTCTACTTG (ZRANB3)	XP_011510268.2:n.3049-5021_3049-5013delinsTTCTACTTG
XR_001738674.2:n.2941+1418_2941+1426delinsCAAGTAGAA (RAB3GAP1)
NM_001172435.2:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	NP_001165906.1:n.1386_1394delinsCAAGTAGAA
NM_012233.3:c.1386_1394delinsCAAGTAGAA (RAB3GAP1) MANE Select	NP_036365.1:n.1386_1394delinsCAAGTAGAA

HGVS	Amino-acid Change
ENST00000539493.3:c.2914+1418_2914+1426delinsCAAGTAGAA (RAB3GAP1)	ENSP00000444306.2:n.2914+1418_2914+1426delinsCAAGTAGAA
ENST00000685652.1:n.4971_4979delinsCAAGTAGAA (RAB3GAP1)
ENST00000685967.1:c.3789_3797delinsCAAGTAGAA (RAB3GAP1)	ENSP00000508423.1:n.3789_3797delinsCAAGTAGAA
ENST00000687199.1:c.4421_4429delinsCAAGTAGAA (RAB3GAP1)	ENSP00000510319.1:n.4421_4429delinsCAAGTAGAA
ENST00000688088.1:n.7514_7522delinsCAAGTAGAA (RAB3GAP1)
ENST00000690208.1:c.4010_4018delinsCAAGTAGAA (RAB3GAP1)	ENSP00000510746.1:n.4010_4018delinsCAAGTAGAA
ENST00000691339.1:c.3976_3984delinsCAAGTAGAA (RAB3GAP1)	ENSP00000509953.1:n.3976_3984delinsCAAGTAGAA
ENST00000691478.1:c.4431_4439delinsCAAGTAGAA (RAB3GAP1)	ENSP00000509081.1:n.4431_4439delinsCAAGTAGAA
ENST00000692993.1:n.1911_1919delinsCAAGTAGAA (RAB3GAP1)
ENST00000693554.1:c.2155_2163delinsCAAGTAGAA (RAB3GAP1)	ENSP00000509030.1:n.2155_2163delinsCAAGTAGAA
ENST00000264158.13:c.1386_1394delinsCAAGTAGAA (RAB3GAP1) MANE Select	ENSP00000264158.8:n.1386_1394delinsCAAGTAGAA
ENST00000264158.12:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	ENSP00000264158.7:n.1386_1394delinsCAAGTAGAA
ENST00000412849.5:n.1782-5021_1782-5013delinsTTCTACTTG (ZRANB3)
ENST00000487003.5:n.3098+319_3098+327delinsCAAGTAGAA (RAB3GAP1)
ENST00000539493.2:c.2897+319_2897+327delinsCAAGTAGAA (RAB3GAP1)	ENSP00000444306.1:n.2897+319_2897+327delinsCAAGTAGAA
ENST00000619650.4:c.1618-5021_1618-5013delinsTTCTACTTG (ZRANB3)	ENSP00000480120.1:n.1618-5021_1618-5013delinsTTCTACTTG
NM_001172435.1:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	NP_001165906.1:n.1386_1394delinsCAAGTAGAA
NM_012233.2:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	NP_036365.1:n.1386_1394delinsCAAGTAGAA
XM_011510822.1:c.2935+1418_2935+1426delinsCAAGTAGAA (RAB3GAP1)	XP_011509124.1:n.2935+1418_2935+1426delinsCAAGTAGAA
XM_011510823.1:c.2914+1418_2914+1426delinsCAAGTAGAA (RAB3GAP1)	XP_011509125.1:n.2914+1418_2914+1426delinsCAAGTAGAA
XM_011510824.1:c.408_416delinsCAAGTAGAA (RAB3GAP1)	XP_011509126.1:n.408_416delinsCAAGTAGAA
XM_011510825.1:c.408_416delinsCAAGTAGAA (RAB3GAP1)	XP_011509127.1:n.408_416delinsCAAGTAGAA
XM_011510823.3:c.2914+1418_2914+1426delinsCAAGTAGAA (RAB3GAP1)	XP_011509125.1:n.2914+1418_2914+1426delinsCAAGTAGAA
XM_011510825.3:c.408_416delinsCAAGTAGAA (RAB3GAP1)	XP_011509127.1:n.408_416delinsCAAGTAGAA
XM_011511966.3:c.3049-5021_3049-5013delinsTTCTACTTG (ZRANB3)	XP_011510268.2:n.3049-5021_3049-5013delinsTTCTACTTG
XR_001738674.2:n.2941+1418_2941+1426delinsCAAGTAGAA (RAB3GAP1)
NM_001172435.2:c.1386_1394delinsCAAGTAGAA (RAB3GAP1)	NP_001165906.1:n.1386_1394delinsCAAGTAGAA
NM_012233.3:c.1386_1394delinsCAAGTAGAA (RAB3GAP1) MANE Select	NP_036365.1:n.1386_1394delinsCAAGTAGAA