Canonical Allele Identifier: CA7181647

Gene: NIN

Linked Data

• dbSNP Id: rs766808584
• ExAC: 14:51223787 GCCC / G
• gnomAD v2: 14-51223787-GCCC-G
• gnomAD v4: 14-50757069-GCCC-G
• MyVariant Identifiers: chr14:g.51223788_51223790del (hg19) ; chr14:g.50757070_50757072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50757071_50757073del , CM000676.2:g.50757071_50757073del	GRCh38
NC_000014.8:g.51223789_51223791del , CM000676.1:g.51223789_51223791del	GRCh37
NC_000014.7:g.50293539_50293541del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000485005.2:c.2400-2205_2400-2203del	ENSP00000431485.2:n.2400-2205_2400-2203de...
ENST00000706705.1:c.1734-2205_1734-2203del	ENSP00000516508.1:n.1734-2205_1734-2203de...
ENST00000706706.1:c.2400-2205_2400-2203del	ENSP00000516509.1:n.2400-2205_2400-2203de...
ENST00000453196.6:c.3958_3960del	ENSP00000412391.1:p.Gly1320del
ENST00000530997.7:c.3958_3960del MANE Select	ENSP00000436092.2:p.Gly1320del
ENST00000673657.1:c.*1204-2205_*1204-2203del	ENSP00000501199.1:n.*1204-2205_*1204-2203...
ENST00000674030.1:c.*667-2205_*667-2203del	ENSP00000501260.1:n.*667-2205_*667-2203de...
ENST00000245441.9:c.3958_3960del	ENSP00000245441.5:p.Gly1320del
ENST00000324330.13:c.2400-2205_2400-2203del	ENSP00000324210.10:n.2400-2205_2400-2203d...
ENST00000382041.7:c.3958_3960del	ENSP00000371472.3:p.Gly1320del
ENST00000382043.8:c.2400-2205_2400-2203del	ENSP00000371474.4:n.2400-2205_2400-2203de...
ENST00000389869.7:c.2429_2431del
ENST00000453196.5:c.3958_3960del	ENSP00000412391.1:p.Gly1320del
ENST00000476352.5:c.3958_3960del	ENSP00000432924.1:p.Gly1320del
ENST00000530853.5:c.2429_2431del
ENST00000530997.6:c.3958_3960del	ENSP00000436092.2:p.Gly1320del
NM_016350.4:c.2400-2205_2400-2203del	NP_057434.4:n.2400-2205_2400-2203del
XM_005267735.3:c.2400-2205_2400-2203del	XP_005267792.1:n.2400-2205_2400-2203del
XM_006720160.2:c.3958_3960del	XP_006720223.2:p.Gly1320del
XM_011536817.1:c.4048_4050del	XP_011535119.1:p.Gly1350del
XM_011536818.1:c.3958_3960del	XP_011535120.1:p.Gly1320del
XM_011536819.1:c.4048_4050del	XP_011535121.1:p.Gly1350del
XM_011536820.1:c.4048_4050del	XP_011535122.1:p.Gly1350del
XM_011536821.1:c.3292_3294del	XP_011535123.1:p.Gly1098del
XM_011536822.1:c.2490-2205_2490-2203del	XP_011535124.1:n.2490-2205_2490-2203del
XM_011536823.1:c.3976_3978del	XP_011535125.1:p.Gly1326del
XM_011536824.1:c.2400-2205_2400-2203del	XP_011535126.1:n.2400-2205_2400-2203del
XM_011536819.3:c.4048_4050del	XP_011535121.1:p.Gly1350del
XM_011536822.2:c.2490-2205_2490-2203del	XP_011535124.1:n.2490-2205_2490-2203del
XM_011536823.2:c.3976_3978del	XP_011535125.1:p.Gly1326del
XM_024449622.1:c.4048_4050del	XP_024305390.1:p.Gly1350del
XR_001750344.2:n.4246_4248del
XR_001750345.2:n.4246_4248del
XR_001750346.2:n.4168_4170del
XR_001750347.2:n.2682-2205_2682-2203del
XR_001750348.2:n.2682-2205_2682-2203del
XR_001750349.2:n.2610-2205_2610-2203del
XR_001750350.2:n.2610-2205_2610-2203del
NM_016350.5:c.2400-2205_2400-2203del	NP_057434.4:n.2400-2205_2400-2203del
NM_020921.4:c.3958_3960del MANE Select	NP_065972.4:p.Gly1320del
NM_182944.3:c.3958_3960del	NP_891989.3:p.Gly1320del
NM_182946.2:c.3958_3960del	NP_891991.2:p.Gly1320del