Canonical Allele Identifier: CA2682193222

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398250-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398251_29398252del , CM000669.2:g.29398251_29398252del	GRCh38
NC_000007.13:g.29437867_29437868del , CM000669.1:g.29437867_29437868del	GRCh37
NC_000007.12:g.29404392_29404393del	NCBI36
NG_029365.2:g.256705_256706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.216-122_216-121del	ENSP00000386968.2:n.216-122_216-121del
ENST00000439384.6:n.439-122_439-121del
ENST00000446446.6:c.177-122_177-121del	ENSP00000396867.2:n.177-122_177-121del
ENST00000706158.1:c.*121-122_*121-121del	ENSP00000516236.1:n.*121-122_*121-121del
ENST00000706159.1:c.89-122_89-121del	ENSP00000516237.1:n.89-122_89-121del
ENST00000706160.1:c.177-122_177-121del	ENSP00000516238.1:n.177-122_177-121del
ENST00000706161.1:c.255-122_255-121del	ENSP00000516239.1:n.255-122_255-121del
ENST00000706162.1:c.177-122_177-121del	ENSP00000516240.1:n.177-122_177-121del
ENST00000706163.1:c.50-82028_50-82027del	ENSP00000516241.1:n.50-82028_50-82027del
ENST00000222792.11:c.177-122_177-121del MANE Select	ENSP00000222792.7:n.177-122_177-121del
ENST00000644824.1:c.402-122_402-121del	ENSP00000495614.1:n.402-122_402-121del
ENST00000222792.10:c.177-122_177-121del	ENSP00000222792.6:n.177-122_177-121del
ENST00000409350.5:c.216-122_216-121del	ENSP00000386968.1:n.216-122_216-121del
ENST00000409922.5:n.388-122_388-121del
ENST00000409964.6:n.376-122_376-121del
ENST00000412536.5:n.197-122_197-121del
ENST00000435288.6:c.168+4549_168+4550del	ENSP00000400282.3:n.168+4549_168+4550del
ENST00000439384.5:c.402-122_402-121del	ENSP00000409843.1:n.402-122_402-121del
ENST00000474070.5:c.277-122_277-121del
ENST00000478128.6:n.271-122_271-121del
ENST00000482820.6:n.386-122_386-121del
ENST00000491856.1:n.1604_1605del
ENST00000495789.6:c.177-122_177-121del	ENSP00000438587.2:n.177-122_177-121del
ENST00000539389.5:c.177-122_177-121del	ENSP00000440526.2:n.177-122_177-121del
ENST00000539406.5:c.177-122_177-121del	ENSP00000444063.2:n.177-122_177-121del
NM_001293069.1:c.402-122_402-121del	NP_001279998.1:n.402-122_402-121del
NM_001293070.1:c.216-122_216-121del	NP_001279999.1:n.216-122_216-121del
NM_001293071.1:c.72-122_72-121del	NP_001280000.1:n.72-122_72-121del
NM_001293072.1:c.132-122_132-121del	NP_001280001.1:n.132-122_132-121del
NM_004067.3:c.177-122_177-121del	NP_004058.1:n.177-122_177-121del
XM_011515105.1:c.480-122_480-121del	XP_011513407.1:n.480-122_480-121del
XM_011515106.1:c.441-122_441-121del	XP_011513408.1:n.441-122_441-121del
XM_011515107.1:c.255-122_255-121del	XP_011513409.1:n.255-122_255-121del
XM_011515108.1:c.177-122_177-121del	XP_011513410.1:n.177-122_177-121del
XM_011515109.1:c.138-122_138-121del	XP_011513411.1:n.138-122_138-121del
XM_011515110.1:c.99-122_99-121del	XP_011513412.1:n.99-122_99-121del
XM_011515111.1:c.72-122_72-121del	XP_011513413.1:n.72-122_72-121del
XM_011515112.1:c.480-122_480-121del	XP_011513414.1:n.480-122_480-121del
XM_011515105.2:c.480-122_480-121del	XP_011513407.1:n.480-122_480-121del
XM_011515106.2:c.441-122_441-121del	XP_011513408.1:n.441-122_441-121del
XM_011515107.2:c.255-122_255-121del	XP_011513409.1:n.255-122_255-121del
XM_017011721.1:c.498-122_498-121del	XP_016867210.1:n.498-122_498-121del
XM_017011722.1:c.273-122_273-121del	XP_016867211.1:n.273-122_273-121del
NM_004067.4:c.177-122_177-121del MANE Select	NP_004058.1:n.177-122_177-121del
NM_001293070.2:c.216-122_216-121del	NP_001279999.1:n.216-122_216-121del
NM_001293071.2:c.72-122_72-121del	NP_001280000.1:n.72-122_72-121del
NM_001293072.2:c.132-122_132-121del	NP_001280001.1:n.132-122_132-121del
NM_001398427.1:c.-262-122_-262-121del	NP_001385356.1:n.-262-122_-262-121del