Canonical Allele Identifier: CA2202658646

Gene: MEFV

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243405_3243407delinsCAT , CM000678.2:g.3243405_3243407delinsCAT	GRCh38
NC_000016.9:g.3293405_3293407delinsCAT , CM000678.1:g.3293405_3293407delinsCAT	GRCh37
NC_000016.8:g.3233406_3233408delinsCAT	NCBI36
NG_007871.1:g.18221_18223delinsATG , LRG_190:g.18221_18223delinsATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1201_1203delinsATG
ENST00000219596.6:c.2080_2082delinsATG MANE Select	ENSP00000219596.1:p.Met694=
ENST00000219596.5:c.2080_2082delinsATG	ENSP00000219596.1:p.Met694=
ENST00000339854.8:c.1540_1542delinsATG	ENSP00000339639.4:p.Met514=
ENST00000536379.5:c.1447_1449delinsATG	ENSP00000445079.1:p.Met483=
ENST00000536980.5:c.*356_*358delinsATG	ENSP00000444178.1:n.*356_*358delinsATG
ENST00000537682.5:c.*356_*358delinsATG	ENSP00000438611.1:n.*356_*358delinsATG
ENST00000538326.5:c.*705_*707delinsATG	ENSP00000437486.1:n.*705_*707delinsATG
ENST00000539145.5:c.1001_1003delinsATG	ENSP00000444471.1:n.1001_1003delinsATG
ENST00000541159.5:c.1622_1624delinsATG	ENSP00000438711.1:n.1622_1624delinsATG
ENST00000542898.5:c.*356_*358delinsATG	ENSP00000444615.1:n.*356_*358delinsATG
ENST00000570511.5:c.1485_1487delinsATG	ENSP00000458312.1:n.1485_1487delinsATG
ENST00000572244.5:c.770_772delinsATG	ENSP00000461186.1:n.770_772delinsATG
ENST00000574583.5:c.852_854delinsATG	ENSP00000460269.1:n.852_854delinsATG
ENST00000576315.5:c.885_887delinsATG	ENSP00000460551.1:n.885_887delinsATG
ENST00000621655.1:c.1617_1619delinsATG	ENSP00000481436.1:n.1617_1619delinsATG
NM_000243.2:c.2080_2082delinsATG , LRG_190t1:c.2080_2082delinsATG	NP_000234.1:p.Met694=
NM_001198536.1:c.*284_*286delinsATG	NP_001185465.1:n.*284_*286delinsATG
XM_017023236.2:c.2077_2079delinsATG	XP_016878725.1:p.Met693=
NM_000243.3:c.2080_2082delinsATG MANE Select	NP_000234.1:p.Met694=
NM_001198536.2:c.*284_*286delinsATG	NP_001185465.2:n.*284_*286delinsATG