Canonical Allele Identifier: CA1697139443

Gene: CPVL CHN2

Linked Data

• dbSNP Id: rs1792292201

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29144835_29144836del , CM000669.2:g.29144835_29144836del	GRCh38
NC_000007.13:g.29184451_29184452del , CM000669.1:g.29184451_29184452del	GRCh37
NC_000007.12:g.29150976_29150977del	NCBI36
NG_029365.2:g.3289_3290del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265394.10:c.-11+1595_-11+1596del (CPVL) MANE Select	ENSP00000265394.5:n.-11+1595_-11+1596del
ENST00000644824.1:c.-730-1019_-730-1018del	ENSP00000495614.1:n.-730-1019_-730-1018de...
ENST00000265394.9:c.-11+1595_-11+1596del (CPVL)	ENSP00000265394.5:n.-11+1595_-11+1596del
ENST00000396276.7:c.-11+1507_-11+1508del (CPVL)	ENSP00000379572.3:n.-11+1507_-11+1508del
ENST00000409850.5:c.-10-23763_-10-23762del (CPVL)	ENSP00000387164.1:n.-10-23763_-10-23762de...
ENST00000423511.1:c.-730-1019_-730-1018del (CHN2)	ENSP00000462650.1:n.-730-1019_-730-1018de...
ENST00000437527.1:c.-10-23763_-10-23762del (CPVL)	ENSP00000416555.1:n.-10-23763_-10-23762de...
ENST00000449801.5:c.-10-23763_-10-23762del (CPVL)	ENSP00000413287.1:n.-10-23763_-10-23762de...
ENST00000455544.5:c.-10-23763_-10-23762del (CPVL)	ENSP00000412857.1:n.-10-23763_-10-23762de...
ENST00000488891.6:n.284-23763_284-23762del (CPVL)
ENST00000578605.1:n.191-1019_191-1018del (CHN2)
ENST00000612187.4:c.-359+1595_-359+1596del (CPVL)	ENSP00000479581.1:n.-359+1595_-359+1596de...
NM_019029.2:c.-11+1507_-11+1508del (CPVL)	NP_061902.2:n.-11+1507_-11+1508del
NM_031311.3:c.-11+1595_-11+1596del (CPVL)	NP_112601.3:n.-11+1595_-11+1596del
XM_011515437.1:c.-11+1287_-11+1288del (CPVL)	XP_011513739.1:n.-11+1287_-11+1288del
NM_001348052.1:c.-10-23763_-10-23762del (CPVL)	NP_001334981.1:n.-10-23763_-10-23762del
NM_001348054.1:c.-10-23763_-10-23762del (CPVL)	NP_001334983.1:n.-10-23763_-10-23762del
NM_019029.3:c.-11+1507_-11+1508del (CPVL)	NP_061902.2:n.-11+1507_-11+1508del
NM_031311.4:c.-11+1595_-11+1596del (CPVL)	NP_112601.3:n.-11+1595_-11+1596del
XM_017012366.1:c.-11+1595_-11+1596del (CPVL)	XP_016867855.1:n.-11+1595_-11+1596del
NM_031311.5:c.-11+1595_-11+1596del (CPVL) MANE Select	NP_112601.3:n.-11+1595_-11+1596del
NM_001371255.1:c.-10-23763_-10-23762del (CPVL)	NP_001358184.1:n.-10-23763_-10-23762del
NM_001371256.1:c.-10-23763_-10-23762del (CPVL)	NP_001358185.1:n.-10-23763_-10-23762del
NM_001371257.1:c.-10-23763_-10-23762del (CPVL)	NP_001358186.1:n.-10-23763_-10-23762del
NM_001371258.1:c.-10-23763_-10-23762del (CPVL)	NP_001358187.1:n.-10-23763_-10-23762del
NM_001371260.1:c.-10-23763_-10-23762del (CPVL)	NP_001358189.1:n.-10-23763_-10-23762del
NM_001371261.1:c.-10-23763_-10-23762del (CPVL)	NP_001358190.1:n.-10-23763_-10-23762del
NM_001371262.1:c.-10-23763_-10-23762del (CPVL)	NP_001358191.1:n.-10-23763_-10-23762del
NM_001371263.1:c.-10-23763_-10-23762del (CPVL)	NP_001358192.1:n.-10-23763_-10-23762del
NM_001371264.1:c.-10-23763_-10-23762del (CPVL)	NP_001358193.1:n.-10-23763_-10-23762del
NM_001371265.1:c.-496-23763_-496-23762del (CPVL)	NP_001358194.1:n.-496-23763_-496-23762del...
NM_001371266.1:c.-364-23763_-364-23762del (CPVL)	NP_001358195.1:n.-364-23763_-364-23762del...
NM_001371267.1:c.-337-23763_-337-23762del (CPVL)	NP_001358196.1:n.-337-23763_-337-23762del...
NM_001371268.1:c.-71-23763_-71-23762del (CPVL)	NP_001358197.1:n.-71-23763_-71-23762del