Canonical Allele Identifier: CA2576621651

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631135-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631139del , CM000681.2:g.10631139del	GRCh38
NC_000019.9:g.10741815del , CM000681.1:g.10741815del	GRCh37
NC_000019.8:g.10602815del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.328del MANE Select	ENSP00000336888.4:p.Gln110ArgfsTer15
ENST00000335757.9:c.328del	ENSP00000336888.4:p.Gln110ArgfsTer15
ENST00000407327.8:c.322del	ENSP00000385135.3:p.Gln108ArgfsTer15
ENST00000586078.5:c.328del	ENSP00000466664.1:p.Gln110ArgfsTer15
ENST00000588409.1:c.245+3135del	ENSP00000468070.1:n.245+3135del
ENST00000588465.5:n.237del
ENST00000588688.5:c.169del	ENSP00000467552.1:p.Gln57ArgfsTer15
ENST00000590382.5:c.163del	ENSP00000468691.1:p.Gln55ArgfsTer15
ENST00000590857.5:c.-222del	ENSP00000465547.1:n.-222del
ENST00000592293.5:c.*125del	ENSP00000466612.1:n.*125del
NM_001145056.1:c.322del	NP_001138528.1:p.Gln108ArgfsTer15
NM_020428.3:c.328del	NP_065161.3:p.Gln110ArgfsTer15
XM_005259997.1:c.328del	XP_005260054.1:p.Gln110ArgfsTer15
XM_005259999.1:c.322del	XP_005260056.1:p.Gln108ArgfsTer15
NM_001363611.1:c.328del	NP_001350540.1:p.Gln110ArgfsTer15
XM_005259999.2:c.322del	XP_005260056.1:p.Gln108ArgfsTer15
NM_020428.4:c.328del MANE Select	NP_065161.3:p.Gln110ArgfsTer15
NM_001145056.2:c.322del	NP_001138528.1:p.Gln108ArgfsTer15
NM_001363611.2:c.328del	NP_001350540.1:p.Gln110ArgfsTer15