Canonical Allele Identifier: CA1266876900
Gene: SFTPB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85663415_85663416delinsGT , CM000664.2:g.85663415_85663416delinsGT GRCh38
NC_000002.11:g.85890538_85890539delinsGT , CM000664.1:g.85890538_85890539delinsGT GRCh37
NC_000002.10:g.85744049_85744050delinsGT NCBI36
NG_016967.1:g.10326_10327delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000409383.6:c.932_933delinsAC ENSP00000386346.2:p.Asn311=
ENST00000519937.7:c.932_933delinsAC MANE Select ENSP00000428719.2:p.Asn311=
ENST00000393822.7:c.932_933delinsAC ENSP00000377409.4:p.Asn311=
ENST00000409383.5:c.968_969delinsAC ENSP00000386346.1:p.Asn323=
ENST00000428225.5:c.909_910delinsAC
ENST00000491167.1:n.132_133delinsAC
ENST00000494165.1:c.63_64delinsAC
ENST00000519937.6:c.932_933delinsAC ENSP00000428719.2:p.Asn311=
NM_000542.3:c.968_969delinsAC NP_000533.3:p.Asn323=
NM_198843.2:c.968_969delinsAC NP_942140.2:p.Asn323=
XM_005264487.2:c.968_969delinsAC XP_005264544.1:p.Asn323=
XM_005264488.2:c.920_921delinsAC XP_005264545.2:p.Asn307=
XM_005264490.3:c.932_933delinsAC XP_005264547.2:p.Asn311=
XM_005264488.4:c.920_921delinsAC XP_005264545.2:p.Asn307=
XM_005264490.4:c.932_933delinsAC XP_005264547.2:p.Asn311=
NM_000542.4:c.932_933delinsAC NP_000533.4:p.Asn311=
NM_001367281.1:c.932_933delinsAC NP_001354210.1:p.Asn311=
NM_198843.3:c.932_933delinsAC NP_942140.3:p.Asn311=
NM_000542.5:c.932_933delinsAC MANE Select NP_000533.4:p.Asn311=