Canonical Allele Identifier: CA269988576

Gene: SLC24A5

Linked Data

• dbSNP Id: rs567124195
• gnomAD v3: 15-48134127-CTGTG-C
• gnomAD v4: 15-48134127-CTGTG-C
• MyVariant Identifiers: chr15:g.48426325_48426328del (hg19) ; chr15:g.48134128_48134131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48134129_48134132del , CM000677.2:g.48134129_48134132del	GRCh38
NC_000015.9:g.48426326_48426329del , CM000677.1:g.48426326_48426329del	GRCh37
NC_000015.8:g.46213618_46213621del	NCBI36
NG_011500.1:g.18158_18161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341459.8:c.302-129_302-126del MANE Select	ENSP00000341550.3:n.302-129_302-126del
ENST00000341459.7:c.302-129_302-126del	ENSP00000341550.3:n.302-129_302-126del
ENST00000449382.2:c.122-129_122-126del	ENSP00000389966.2:n.122-129_122-126del
ENST00000463289.1:n.62-129_62-126del
NM_205850.2:c.302-129_302-126del	NP_995322.1:n.302-129_302-126del
XM_011521458.1:c.302-129_302-126del	XP_011519760.1:n.302-129_302-126del
XM_017022079.1:c.-38-129_-38-126del	XP_016877568.1:n.-38-129_-38-126del
XM_017022080.1:c.-38-129_-38-126del	XP_016877569.1:n.-38-129_-38-126del
XM_024449901.1:c.-38-129_-38-126del	XP_024305669.1:n.-38-129_-38-126del
NM_205850.3:c.302-129_302-126del MANE Select	NP_995322.1:n.302-129_302-126del