Canonical Allele Identifier: CA904633162

Gene: TMEM44

Linked Data

• dbSNP Id: rs1296154555
• gnomAD v3: 3-194604619-CTGTGTCT-C
• gnomAD v4: 3-194604619-CTGTGTCT-C
• MyVariant Identifiers: chr3:g.194325349_194325355del (hg19) ; chr3:g.194604620_194604626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604625_194604631del , CM000665.2:g.194604625_194604631del	GRCh38
NC_000003.11:g.194325354_194325360del , CM000665.1:g.194325354_194325360del	GRCh37
NC_000003.10:g.195806643_195806649del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1018-181_1018-175del MANE Select	ENSP00000333355.6:n.1018-181_1018-175del
ENST00000347147.8:c.1018-181_1018-175del	ENSP00000333355.6:n.1018-181_1018-175del
ENST00000381975.7:c.1018-185_1018-179del	ENSP00000371402.3:n.1018-185_1018-179del
ENST00000392432.6:c.1159-181_1159-175del	ENSP00000376227.2:n.1159-181_1159-175del
ENST00000419280.5:c.*314-181_*314-175del	ENSP00000414077.1:n.*314-181_*314-175del
ENST00000429560.1:c.214-185_214-179del	ENSP00000403053.1:n.214-185_214-179del
ENST00000432352.5:c.292-181_292-175del	ENSP00000409963.1:n.292-181_292-175del
ENST00000452358.5:c.517-181_517-175del	ENSP00000414333.1:n.517-181_517-175del
ENST00000467284.1:n.64-181_64-175del
ENST00000473092.5:c.1018-181_1018-175del	ENSP00000418674.1:n.1018-181_1018-175del
ENST00000477651.5:n.782-181_782-175del
NM_001011655.2:c.1018-181_1018-175del	NP_001011655.1:n.1018-181_1018-175del
NM_001166305.1:c.1159-181_1159-175del	NP_001159777.1:n.1159-181_1159-175del
NM_001166306.1:c.1018-185_1018-179del	NP_001159778.1:n.1018-185_1018-179del
NM_138399.4:c.1018-181_1018-175del	NP_612408.3:n.1018-181_1018-175del
XM_005269371.3:c.1018-181_1018-175del	XP_005269428.1:n.1018-181_1018-175del
XM_011513318.1:c.1168-181_1168-175del	XP_011511620.1:n.1168-181_1168-175del
XM_011513319.1:c.1105-181_1105-175del	XP_011511621.1:n.1105-181_1105-175del
XM_011513320.1:c.1216-181_1216-175del	XP_011511622.1:n.1216-181_1216-175del
XM_011513321.1:c.1084-181_1084-175del	XP_011511623.1:n.1084-181_1084-175del
XM_011513322.1:c.1075-181_1075-175del	XP_011511624.1:n.1075-181_1075-175del
XM_011513323.1:c.913-181_913-175del	XP_011511625.1:n.913-181_913-175del
XM_005269371.4:c.1018-181_1018-175del	XP_005269428.1:n.1018-181_1018-175del
XM_011513318.2:c.1168-181_1168-175del	XP_011511620.1:n.1168-181_1168-175del
XM_011513319.2:c.1105-181_1105-175del	XP_011511621.1:n.1105-181_1105-175del
XM_011513320.2:c.1216-181_1216-175del	XP_011511622.1:n.1216-181_1216-175del
XM_011513321.2:c.1084-181_1084-175del	XP_011511623.1:n.1084-181_1084-175del
XM_011513322.2:c.1075-181_1075-175del	XP_011511624.1:n.1075-181_1075-175del
XM_017007517.1:c.1027-181_1027-175del	XP_016863006.1:n.1027-181_1027-175del
XM_017007518.1:c.1027-181_1027-175del	XP_016863007.1:n.1027-181_1027-175del
NM_001011655.3:c.1018-181_1018-175del MANE Select	NP_001011655.1:n.1018-181_1018-175del
NM_001166305.2:c.1159-181_1159-175del	NP_001159777.1:n.1159-181_1159-175del
NM_001166306.2:c.1018-185_1018-179del	NP_001159778.1:n.1018-185_1018-179del
NM_138399.5:c.1018-181_1018-175del	NP_612408.3:n.1018-181_1018-175del