Canonical Allele Identifier: CA2695115353

Gene: EMD

Linked Data

• gnomAD v4: X-154380720-AGCCAGTCCCCTCGCCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380722_154380738del , CM000685.2:g.154380722_154380738del	GRCh38
NC_000023.10:g.153609082_153609098del , CM000685.1:g.153609082_153609098del	GRCh37
NC_000023.9:g.153262276_153262292del	NCBI36
NG_008677.1:g.11287_11303del , LRG_745:g.11287_11303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-31_400-15del	ENSP00000507245.1:n.400-31_400-15del
ENST00000682478.1:n.590-31_590-15del
ENST00000683576.1:n.590-31_590-15del
ENST00000683627.1:c.400-31_400-15del	ENSP00000507533.1:n.400-31_400-15del
ENST00000684082.1:c.357-31_357-15del	ENSP00000508266.1:n.357-31_357-15del
ENST00000684633.1:n.372-31_372-15del
ENST00000684678.1:c.396-31_396-15del	ENSP00000507059.1:n.396-31_396-15del
ENST00000369842.9:c.400-31_400-15del MANE Select	ENSP00000358857.4:n.400-31_400-15del
ENST00000369835.3:c.295-31_295-15del	ENSP00000358850.3:n.295-31_295-15del
ENST00000369842.8:c.400-31_400-15del	ENSP00000358857.4:n.400-31_400-15del
ENST00000428228.5:c.*305-31_*305-15del	ENSP00000401081.1:n.*305-31_*305-15del
ENST00000468294.5:n.360-31_360-15del
ENST00000471965.1:n.158_174del
ENST00000485261.1:n.590-31_590-15del
ENST00000486738.5:n.758-31_758-15del
ENST00000492448.1:n.383-31_383-15del
NM_000117.2:c.400-31_400-15del , LRG_745t1:c.400-31_400-15del	NP_000108.1:n.400-31_400-15del
XM_024452349.1:c.406-31_406-15del	XP_024308117.1:n.406-31_406-15del
NM_000117.3:c.400-31_400-15del MANE Select	NP_000108.1:n.400-31_400-15del