Canonical Allele Identifier: CA1099763951

Gene: CHN2

Linked Data

• dbSNP Id: rs1801089936
• gnomAD v3: 7-29388294-CAAAT-C
• gnomAD v4: 7-29388294-CAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29388300_29388303del , CM000669.2:g.29388300_29388303del	GRCh38
NC_000007.13:g.29427916_29427919del , CM000669.1:g.29427916_29427919del	GRCh37
NC_000007.12:g.29394441_29394444del	NCBI36
NG_029365.2:g.246754_246757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.184-5379_184-5376del	ENSP00000386968.2:n.184-5379_184-5376del
ENST00000439384.6:n.407-5379_407-5376del
ENST00000446446.6:c.145-5379_145-5376del	ENSP00000396867.2:n.145-5379_145-5376del
ENST00000706158.1:c.*89-5379_*89-5376del	ENSP00000516236.1:n.*89-5379_*89-5376del
ENST00000706159.1:c.89-10073_89-10070del	ENSP00000516237.1:n.89-10073_89-10070del
ENST00000706160.1:c.145-5379_145-5376del	ENSP00000516238.1:n.145-5379_145-5376del
ENST00000706161.1:c.223-5379_223-5376del	ENSP00000516239.1:n.223-5379_223-5376del
ENST00000706162.1:c.145-5379_145-5376del	ENSP00000516240.1:n.145-5379_145-5376del
ENST00000706163.1:c.50-91979_50-91976del	ENSP00000516241.1:n.50-91979_50-91976del
ENST00000222792.11:c.145-5379_145-5376del MANE Select	ENSP00000222792.7:n.145-5379_145-5376del
ENST00000644824.1:c.370-5379_370-5376del	ENSP00000495614.1:n.370-5379_370-5376del
ENST00000222792.10:c.145-5379_145-5376del	ENSP00000222792.6:n.145-5379_145-5376del
ENST00000409350.5:c.184-5379_184-5376del	ENSP00000386968.1:n.184-5379_184-5376del
ENST00000409922.5:n.356-5379_356-5376del
ENST00000409964.6:n.344-5379_344-5376del
ENST00000412536.5:n.165-5379_165-5376del
ENST00000435288.6:c.145-5379_145-5376del	ENSP00000400282.3:n.145-5379_145-5376del
ENST00000439384.5:c.370-5379_370-5376del	ENSP00000409843.1:n.370-5379_370-5376del
ENST00000474070.5:c.245-5379_245-5376del
ENST00000478128.6:n.239-5379_239-5376del
ENST00000482820.6:n.354-5379_354-5376del
ENST00000495789.6:c.145-5379_145-5376del	ENSP00000438587.2:n.145-5379_145-5376del
ENST00000539389.5:c.145-5379_145-5376del	ENSP00000440526.2:n.145-5379_145-5376del
ENST00000539406.5:c.145-5379_145-5376del	ENSP00000444063.2:n.145-5379_145-5376del
NM_001293069.1:c.370-5379_370-5376del	NP_001279998.1:n.370-5379_370-5376del
NM_001293070.1:c.184-5379_184-5376del	NP_001279999.1:n.184-5379_184-5376del
NM_001293071.1:c.40-5379_40-5376del	NP_001280000.1:n.40-5379_40-5376del
NM_001293072.1:c.100-5379_100-5376del	NP_001280001.1:n.100-5379_100-5376del
NM_004067.3:c.145-5379_145-5376del	NP_004058.1:n.145-5379_145-5376del
XM_011515105.1:c.448-5379_448-5376del	XP_011513407.1:n.448-5379_448-5376del
XM_011515106.1:c.409-5379_409-5376del	XP_011513408.1:n.409-5379_409-5376del
XM_011515107.1:c.223-5379_223-5376del	XP_011513409.1:n.223-5379_223-5376del
XM_011515108.1:c.145-5379_145-5376del	XP_011513410.1:n.145-5379_145-5376del
XM_011515109.1:c.106-5379_106-5376del	XP_011513411.1:n.106-5379_106-5376del
XM_011515110.1:c.67-5379_67-5376del	XP_011513412.1:n.67-5379_67-5376del
XM_011515111.1:c.40-5379_40-5376del	XP_011513413.1:n.40-5379_40-5376del
XM_011515112.1:c.448-5379_448-5376del	XP_011513414.1:n.448-5379_448-5376del
XM_011515105.2:c.448-5379_448-5376del	XP_011513407.1:n.448-5379_448-5376del
XM_011515106.2:c.409-5379_409-5376del	XP_011513408.1:n.409-5379_409-5376del
XM_011515107.2:c.223-5379_223-5376del	XP_011513409.1:n.223-5379_223-5376del
XM_017011721.1:c.466-5379_466-5376del	XP_016867210.1:n.466-5379_466-5376del
XM_017011722.1:c.241-5379_241-5376del	XP_016867211.1:n.241-5379_241-5376del
NM_004067.4:c.145-5379_145-5376del MANE Select	NP_004058.1:n.145-5379_145-5376del
NM_001293070.2:c.184-5379_184-5376del	NP_001279999.1:n.184-5379_184-5376del
NM_001293071.2:c.40-5379_40-5376del	NP_001280000.1:n.40-5379_40-5376del
NM_001293072.2:c.100-5379_100-5376del	NP_001280001.1:n.100-5379_100-5376del
NM_001398427.1:c.-294-5379_-294-5376del	NP_001385356.1:n.-294-5379_-294-5376del