Canonical Allele Identifier: CA915943812
Community Standard Title: NC_000002.12:g.46902832_46910845del
Gene: MCFD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46902832_46910845del , CM000664.2:g.46902832_46910845del GRCh38
NC_000002.11:g.47129971_47137984del , CM000664.1:g.47129971_47137984del GRCh37
NC_000002.10:g.46983475_46991488del NCBI36
NG_016428.2:g.36011_44024del , LRG_566:g.36011_44024del

Transcript Alleles

HGVS Amino-acid Change
NM_001171506.2:c.-72_*2631del , LRG_566t1:c.-72_*2631del
NM_001171507.2:c.-6-1668_*2631del , LRG_566t2:c.-6-1668_*2631del
NM_001171508.2:c.-6-1668_*2631del , LRG_566t3:c.-6-1668_*2631del
NM_001171509.2:c.-7-2876_*2631del
NM_001171509.3:c.-7-2876_*2631del
NM_001171510.2:c.-7-2876_*2631del
NM_001171510.3:c.-7-2876_*2631del
NM_001171511.2:c.93-2876_*2631del
NM_001171511.3:c.93-2876_*2631del
NM_139279.5:c.-6-1668_*2631del , LRG_566t4:c.-6-1668_*2631del
NM_139279.6:c.-6-1668_*2631del
ENST00000319466.8:c.-6-1668_*2631del
ENST00000319466.9:c.-6-1668_*2631del
ENST00000409105.5:c.-6-1668_*2631del
ENST00000409800.5:c.-7-2876_*2631del
ENST00000409913.5:c.-7-2876_*2631del
ENST00000444761.6:c.93-2876_*2631del
ENST00000649435.1:c.-6-1668_*2738del