Canonical Allele Identifier: CA2682192994

Gene: CHN2

Linked Data

• gnomAD v4: 7-29398057-AAGGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29398058_29398063del , CM000669.2:g.29398058_29398063del	GRCh38
NC_000007.13:g.29437674_29437679del , CM000669.1:g.29437674_29437679del	GRCh37
NC_000007.12:g.29404199_29404204del	NCBI36
NG_029365.2:g.256512_256517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409350.6:c.216-315_216-310del	ENSP00000386968.2:n.216-315_216-310del
ENST00000439384.6:n.439-315_439-310del
ENST00000446446.6:c.177-315_177-310del	ENSP00000396867.2:n.177-315_177-310del
ENST00000706158.1:c.*121-315_*121-310del	ENSP00000516236.1:n.*121-315_*121-310del
ENST00000706159.1:c.89-315_89-310del	ENSP00000516237.1:n.89-315_89-310del
ENST00000706160.1:c.177-315_177-310del	ENSP00000516238.1:n.177-315_177-310del
ENST00000706161.1:c.255-315_255-310del	ENSP00000516239.1:n.255-315_255-310del
ENST00000706162.1:c.177-315_177-310del	ENSP00000516240.1:n.177-315_177-310del
ENST00000706163.1:c.50-82221_50-82216del	ENSP00000516241.1:n.50-82221_50-82216del
ENST00000222792.11:c.177-315_177-310del MANE Select	ENSP00000222792.7:n.177-315_177-310del
ENST00000644824.1:c.402-315_402-310del	ENSP00000495614.1:n.402-315_402-310del
ENST00000222792.10:c.177-315_177-310del	ENSP00000222792.6:n.177-315_177-310del
ENST00000409350.5:c.216-315_216-310del	ENSP00000386968.1:n.216-315_216-310del
ENST00000409922.5:n.388-315_388-310del
ENST00000409964.6:n.376-315_376-310del
ENST00000412536.5:n.197-315_197-310del
ENST00000435288.6:c.168+4356_168+4361del	ENSP00000400282.3:n.168+4356_168+4361del
ENST00000439384.5:c.402-315_402-310del	ENSP00000409843.1:n.402-315_402-310del
ENST00000474070.5:c.277-315_277-310del
ENST00000478128.6:n.271-315_271-310del
ENST00000482820.6:n.386-315_386-310del
ENST00000491856.1:n.1411_1416del
ENST00000495789.6:c.177-315_177-310del	ENSP00000438587.2:n.177-315_177-310del
ENST00000539389.5:c.177-315_177-310del	ENSP00000440526.2:n.177-315_177-310del
ENST00000539406.5:c.177-315_177-310del	ENSP00000444063.2:n.177-315_177-310del
NM_001293069.1:c.402-315_402-310del	NP_001279998.1:n.402-315_402-310del
NM_001293070.1:c.216-315_216-310del	NP_001279999.1:n.216-315_216-310del
NM_001293071.1:c.72-315_72-310del	NP_001280000.1:n.72-315_72-310del
NM_001293072.1:c.132-315_132-310del	NP_001280001.1:n.132-315_132-310del
NM_004067.3:c.177-315_177-310del	NP_004058.1:n.177-315_177-310del
XM_011515105.1:c.480-315_480-310del	XP_011513407.1:n.480-315_480-310del
XM_011515106.1:c.441-315_441-310del	XP_011513408.1:n.441-315_441-310del
XM_011515107.1:c.255-315_255-310del	XP_011513409.1:n.255-315_255-310del
XM_011515108.1:c.177-315_177-310del	XP_011513410.1:n.177-315_177-310del
XM_011515109.1:c.138-315_138-310del	XP_011513411.1:n.138-315_138-310del
XM_011515110.1:c.99-315_99-310del	XP_011513412.1:n.99-315_99-310del
XM_011515111.1:c.72-315_72-310del	XP_011513413.1:n.72-315_72-310del
XM_011515112.1:c.480-315_480-310del	XP_011513414.1:n.480-315_480-310del
XM_011515105.2:c.480-315_480-310del	XP_011513407.1:n.480-315_480-310del
XM_011515106.2:c.441-315_441-310del	XP_011513408.1:n.441-315_441-310del
XM_011515107.2:c.255-315_255-310del	XP_011513409.1:n.255-315_255-310del
XM_017011721.1:c.498-315_498-310del	XP_016867210.1:n.498-315_498-310del
XM_017011722.1:c.273-315_273-310del	XP_016867211.1:n.273-315_273-310del
NM_004067.4:c.177-315_177-310del MANE Select	NP_004058.1:n.177-315_177-310del
NM_001293070.2:c.216-315_216-310del	NP_001279999.1:n.216-315_216-310del
NM_001293071.2:c.72-315_72-310del	NP_001280000.1:n.72-315_72-310del
NM_001293072.2:c.132-315_132-310del	NP_001280001.1:n.132-315_132-310del
NM_001398427.1:c.-262-315_-262-310del	NP_001385356.1:n.-262-315_-262-310del