Canonical Allele Identifier: CA2582408744

Gene: SLC44A2

Linked Data

• gnomAD v4: 19-10631386-GTGAGTTGTAGACTGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631391_10631407del , CM000681.2:g.10631391_10631407del	GRCh38
NC_000019.9:g.10742067_10742083del , CM000681.1:g.10742067_10742083del	GRCh37
NC_000019.8:g.10603067_10603083del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335757.10:c.441+6_441+22del MANE Select	ENSP00000336888.4:n.441+6_441+22del
ENST00000335757.9:c.441+6_441+22del	ENSP00000336888.4:n.441+6_441+22del
ENST00000407327.8:c.435+6_435+22del	ENSP00000385135.3:n.435+6_435+22del
ENST00000586078.5:c.441+6_441+22del	ENSP00000466664.1:n.441+6_441+22del
ENST00000588409.1:c.246-3365_246-3349del	ENSP00000468070.1:n.246-3365_246-3349del
ENST00000588465.5:n.350+6_350+22del
ENST00000588688.5:c.282+6_282+22del	ENSP00000467552.1:n.282+6_282+22del
ENST00000590382.5:c.276+6_276+22del	ENSP00000468691.1:n.276+6_276+22del
ENST00000590857.5:c.-109+6_-109+22del	ENSP00000465547.1:n.-109+6_-109+22del
ENST00000592293.5:c.*238+6_*238+22del	ENSP00000466612.1:n.*238+6_*238+22del
NM_001145056.1:c.435+6_435+22del	NP_001138528.1:n.435+6_435+22del
NM_020428.3:c.441+6_441+22del	NP_065161.3:n.441+6_441+22del
XM_005259997.1:c.441+6_441+22del	XP_005260054.1:n.441+6_441+22del
XM_005259999.1:c.435+6_435+22del	XP_005260056.1:n.435+6_435+22del
NM_001363611.1:c.441+6_441+22del	NP_001350540.1:n.441+6_441+22del
XM_005259999.2:c.435+6_435+22del	XP_005260056.1:n.435+6_435+22del
NM_020428.4:c.441+6_441+22del MANE Select	NP_065161.3:n.441+6_441+22del
NM_001145056.2:c.435+6_435+22del	NP_001138528.1:n.435+6_435+22del
NM_001363611.2:c.441+6_441+22del	NP_001350540.1:n.441+6_441+22del