Canonical Allele Identifier: CA2695115350

Gene: EMD

Linked Data

• gnomAD v4: X-154380711-GGCCCTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380712_154380718del , CM000685.2:g.154380712_154380718del	GRCh38
NC_000023.10:g.153609072_153609078del , CM000685.1:g.153609072_153609078del	GRCh37
NC_000023.9:g.153262266_153262272del	NCBI36
NG_008677.1:g.11277_11283del , LRG_745:g.11277_11283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-41_400-35del	ENSP00000507245.1:n.400-41_400-35del
ENST00000682478.1:n.590-41_590-35del
ENST00000683576.1:n.590-41_590-35del
ENST00000683627.1:c.400-41_400-35del	ENSP00000507533.1:n.400-41_400-35del
ENST00000684082.1:c.357-41_357-35del	ENSP00000508266.1:n.357-41_357-35del
ENST00000684633.1:n.372-41_372-35del
ENST00000684678.1:c.396-41_396-35del	ENSP00000507059.1:n.396-41_396-35del
ENST00000369842.9:c.400-41_400-35del MANE Select	ENSP00000358857.4:n.400-41_400-35del
ENST00000369835.3:c.295-41_295-35del	ENSP00000358850.3:n.295-41_295-35del
ENST00000369842.8:c.400-41_400-35del	ENSP00000358857.4:n.400-41_400-35del
ENST00000428228.5:c.*305-41_*305-35del	ENSP00000401081.1:n.*305-41_*305-35del
ENST00000468294.5:n.360-41_360-35del
ENST00000471965.1:n.148_154del
ENST00000485261.1:n.590-41_590-35del
ENST00000486738.5:n.758-41_758-35del
ENST00000492448.1:n.383-41_383-35del
NM_000117.2:c.400-41_400-35del , LRG_745t1:c.400-41_400-35del	NP_000108.1:n.400-41_400-35del
XM_024452349.1:c.406-41_406-35del	XP_024308117.1:n.406-41_406-35del
NM_000117.3:c.400-41_400-35del MANE Select	NP_000108.1:n.400-41_400-35del